Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p... |
OMIM:615524 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancreas, Duodenal st... |
ORPHA:2470 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, Microphthalmia, En... |
OMIM:613885 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Truncus arteriosus, Intestinal malrotat... |
ORPHA:2538 |
Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, High, narrow palate, Abnormality of the ureter, Cleft pa... |
ORPHA:3378 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Renal... |
OMIM:601186 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Esophageal atresia, Tr... |
ORPHA:77298 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cleft palate |
OMIM:164180 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Anencephaly 2 |
|
Anophthalmia, Median cleft palate |
OMIM:619452 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Cleft palate, Congenital m... |
ORPHA:261344 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia, High palate |
ORPHA:66625 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Dysphagia |
ORPHA:89844 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... |
ORPHA:564 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Aniridia, Microphthalmia, Micropenis, Ankyloglossia |
OMIM:602361 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
Hydrolethalus |
|
Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula |
ORPHA:2189 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Microphthalmia, Micropenis |
OMIM:610125 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Proteinuria, Abnormal pulmonary val... |
ORPHA:2162 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bif... |
ORPHA:899 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Hypospadias, Optic nerve hypoplasia... |
OMIM:206900 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, High palate |
ORPHA:139471 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, High palate, Cleft palate |
OMIM:206920 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia |
ORPHA:90322 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Mitral valve prolapse, Polycystic kidney dysplasia, Hep... |
OMIM:173900 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Anophthalmia, Hypospadias, Bilateral microphthalmos, Renal h... |
OMIM:219000 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Anal atresia |
ORPHA:3412 |
Joubert Syndrome 21 |
|
Splenomegaly, Anophthalmia, Renal cyst, Dysphagia |
OMIM:615636 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Dilated cardiomyopathy, Mitral ... |
ORPHA:2556 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Charge Syndrome |
|
Anophthalmia, Secundum atrial septal defect, Atrial septal defect, Micropenis, Aplasia/Hypoplasia... |
OMIM:214800 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Anemia |
ORPHA:90321 |
Mirage Syndrome |
|
Hypospadias, Thrombocytopenia, Esophageal stricture, Leukopenia, Gastroesophageal reflux, Microph... |
OMIM:617053 |
Fibular Hemimelia |
|
Anophthalmia, Thrombocytopenia, Abnormal heart morphology |
ORPHA:93323 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bif... |
ORPHA:2250 |
Charge Syndrome |
|
Anophthalmia, Abnormal soft palate morphology, Tracheoesophageal fistula, Horseshoe kidney, Cleft... |
ORPHA:138 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, High, narrow palate, Anophthalmia, Tricuspid valve prolapse |
ORPHA:1101 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia |
OMIM:185070 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... |
ORPHA:699 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Urete... |
ORPHA:141099 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Hypospadias, Ventricular septal defect, Dextrocardia, Submucous cleft hard palate, ... |
OMIM:300166 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anophthalmia, Anal stenosis, Rena... |
ORPHA:2052 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Narrow palate, High palate |
OMIM:605627 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Renal hypoplasia |
ORPHA:264200 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Bilateral cleft lip and palate, Microphthalmi... |
OMIM:610829 |
Fg Syndrome Type 1 |
|
Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, P... |
ORPHA:93932 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia |
ORPHA:2526 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Acute colitis, Intestinal perforation, Leukocytosis, Schistocytosis, Per... |
ORPHA:90038 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Intestinal malrotation, Hiatus hernia, Horseshoe kidney, Clef... |
OMIM:305600 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Malrotation of colon, Pyloric stenosis, Renal cyst, Cleft palate, Gast... |
OMIM:113620 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Hydroureter, Hypospadias, Aganglionic megacolon, High, narro... |
OMIM:309800 |
Microphthalmia With Limb Anomalies |
|
Cleft palate, Horseshoe kidney, High palate, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Renal hypoplasia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula |
OMIM:607932 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Ectopic kidney, Cleft pala... |
OMIM:164210 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis |
ORPHA:109 |