Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney |
OMIM:613885 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia |
OMIM:616947 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Rhegmatogenous retinal detachment, Peripheral retinal av... |
ORPHA:891 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma |
OMIM:616428 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dys... |
OMIM:613730 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Anemia, Leukopenia, Nephrotic syndrome, F... |
OMIM:617303 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Chorioretinal coloboma, Microphthalmia... |
ORPHA:195 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Hematuria, Chorioretinal coloboma, Microphthalmia |
ORPHA:1473 |
Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia, Renal hypoplasia |
OMIM:615665 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... |
ORPHA:730 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... |
OMIM:263200 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria, Optic atrophy |
OMIM:274270 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Microphthalmia, Chorioretinal coloboma |
OMIM:120433 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy |
OMIM:616171 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma |
OMIM:611638 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Lymphadenopathy, Anemia, Microph... |
ORPHA:858 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting |
OMIM:609218 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly |
ORPHA:2432 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal retinal morphology on macular OCT... |
ORPHA:251004 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Inferior chorioretinal coloboma |
OMIM:614497 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... |
ORPHA:83461 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Asplenia, Pancreatic cysts, Splenomegaly,... |
OMIM:208540 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated 6 |
|
Microphthalmia, Retinal fold |
OMIM:613517 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cryptorchidism |
OMIM:601794 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Lipemia retinalis, Nephrolithiasis,... |
OMIM:232220 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis |
OMIM:613094 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cryptorchidism |
ORPHA:363741 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Cryptorchidism, Renal hypopla... |
ORPHA:85284 |
Cofs Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal coloboma |
ORPHA:231736 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia |
OMIM:615085 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... |
ORPHA:2470 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Retinal dysplasia |
ORPHA:324416 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop... |
ORPHA:505248 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iris, ... |
ORPHA:290 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... |
OMIM:212550 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Multiple ... |
ORPHA:464329 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Lipemia retinalis, Nephrolithiasis, Focal segmental glomerulosclerosis... |
OMIM:232200 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pigmentary retinopathy, Vitreous hemorrhage, Re... |
OMIM:193220 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid |
ORPHA:209956 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchid... |
OMIM:610125 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... |
ORPHA:2547 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hypospadias |
ORPHA:141333 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Abnormal renal mor... |
OMIM:609053 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ... |
OMIM:194080 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:300915 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Micropenis, De... |
ORPHA:168569 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exudative vitreore... |
ORPHA:2788 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney |
OMIM:618188 |
Trisomy 13 |
|
Anophthalmia, Displacement of the urethral meatus, Abnormal retinal vascular morphology, Cryptorc... |
ORPHA:3378 |
Warburg Micro Syndrome 1 |
|
Microphthalmia, Optic atrophy, Cryptorchidism |
OMIM:600118 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Lymphoid Interstitial Pneumonia |
|
Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Pierpont Syndrome |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:602342 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:615524 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ... |
OMIM:609049 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly |
OMIM:619053 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... |
ORPHA:899 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Microphthalmia... |
OMIM:152950 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Splenomegaly, Microphthalmia, Retinopathy |
ORPHA:773 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Reti... |
ORPHA:500095 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:611561 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cryptorchidism, Optic atrophy, Abnormal... |
ORPHA:2510 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Leukemia, Nephroblastoma |
OMIM:602501 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia, Retinal detachment |
OMIM:613153 |
Pierpont Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:487825 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Hydronephrosis, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:619185 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur... |
OMIM:614105 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic... |
OMIM:130650 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancreatic cysts, H... |
ORPHA:731 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Lissencephaly 8 |
|
Microphthalmia, Optic atrophy |
OMIM:617255 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Chronic neutropenia, Stage 5 chronic kidney disease, Nephrolithiasis, ... |
ORPHA:79259 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Retinal dystrophy |
OMIM:613155 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Choroideremia, Ab... |
ORPHA:116 |
Norrie Disease |
|
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... |
OMIM:310600 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Chorioretinal coloboma, Vesicoureteral reflux, Microp... |
ORPHA:494344 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor |
OMIM:300887 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Renal hy... |
OMIM:603467 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Hydronephrosis |
OMIM:618494 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen... |
ORPHA:335 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Hypoplasia of the ovary, Hypoplasti... |
ORPHA:79328 |
Temtamy Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
ORPHA:1777 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Microphthalmia, Hypopigmentation of the fundus, Oligosacchariduria |
ORPHA:163649 |
Nance-Horan Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:627 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Throm... |
OMIM:227650 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microphthalmia, Microcytic anemia |
OMIM:618805 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Throm... |
OMIM:600901 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney |
OMIM:252500 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc... |
ORPHA:2969 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:603194 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Optic disc coloboma, Choriore... |
ORPHA:568 |
Warburg Micro Syndrome 4 |
|
Cryptorchidism, Optic atrophy, Microphthalmia, Micropenis, Decreased testicular size |
OMIM:615663 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen |
OMIM:602361 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Optic atrophy, Microcytic anemia |
OMIM:612379 |
Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cryptorchidism |
OMIM:601349 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system |
OMIM:257910 |
Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Retinal vascular tortuosity... |
OMIM:243605 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Retinal dystrophy, Cryptorchidism, Chorioretinal coloboma, Microphthalmia |
ORPHA:139471 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Hypoplasia of penis, Retinal coloboma |
ORPHA:2328 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Micropenis, Chorioretinal coloboma, Cryptorchidism |
OMIM:243310 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Throm... |
OMIM:227645 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Ret... |
OMIM:607323 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Microphthalmia, Macular coloboma |
OMIM:615145 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Renal hypoplasia |
OMIM:618914 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Microphthalmia |
ORPHA:3301 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney |
OMIM:306955 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:611134 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Retinal degeneration, Abnormally large globe |
OMIM:615249 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia, Thrombocytopenia |
OMIM:619981 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... |
OMIM:615873 |
Joubert Syndrome 14 |
|
Microphthalmia, Morning glory anomaly, Optic atrophy, Renal cyst |
OMIM:614424 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Cryptorchidism, Hydrocele testis, Iron deficiency anemia... |
OMIM:300855 |
Kapur-Toriello Syndrome |
|
Cryptorchidism, Abnormality of the urinary system, Retinal coloboma, Microphthalmia, Micropenis |
OMIM:244300 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Microphthalmia, Cardiomegaly |
OMIM:618652 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Microphthalmia, Optic atrophy, Optic nerve hypoplasia |
ORPHA:370959 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal... |
OMIM:612109 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Throm... |
OMIM:227646 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:77298 |
Marden-Walker Syndrome |
|
Hypospadias, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis |
OMIM:248700 |
Joubert Syndrome 2 |
|
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Nephronophthisis, Chorio... |
OMIM:608091 |
Warburg Micro Syndrome 3 |
|
Microphthalmia, Micropenis, Optic atrophy, Decreased testicular size |
OMIM:614222 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Micr... |
OMIM:221900 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis |
OMIM:610756 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Retinopathy, Microphthalmia, Hypospadias, Cryptorchidism |
ORPHA:2505 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Retinal atrophy, Unilateral r... |
ORPHA:90324 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Adams-Oliver Syndrome 2 |
|
Microphthalmia, Optic atrophy |
OMIM:614219 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Renal dysplasia, Hydroureter, Decreased response to growth hormone stimulatio... |
OMIM:146510 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cryptorchidism |
OMIM:214150 |
Warburg Micro Syndrome 2 |
|
Microphthalmia, Micropenis, Optic atrophy, Cryptorchidism |
OMIM:614225 |
Moebius Syndrome |
|
Microphthalmia, Micropenis, Decreased testicular size |
OMIM:157900 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis... |
OMIM:241410 |
Otodental Syndrome |
|
Microphthalmia, Lens coloboma, Retinal coloboma |
ORPHA:2791 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi... |
ORPHA:564 |
Encephalocraniocutaneous Lipomatosis |
|
Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen,... |
OMIM:601186 |
Hartsfield Syndrome |
|
Microphthalmia |
ORPHA:2117 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Supernumerary nipple, Retinal vascular... |
OMIM:308300 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm |
OMIM:617883 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Optic disc coloboma, Horsesho... |
ORPHA:959 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia, Retinal coloboma, Renal dysplasia |
OMIM:618571 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp... |
OMIM:614643 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Bupht... |
OMIM:236670 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Proteinuria, Multiple bladder diverticula, Cryptorchidism |
ORPHA:2728 |
Temtamy Syndrome |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:218340 |
Frontonasal Dysplasia 1 |
|
Microphthalmia |
OMIM:136760 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Patent urachus, Mic... |
OMIM:618280 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple renal c... |
ORPHA:99776 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Increased retinal vascularity, Microphthalmia, Lingual thy... |
OMIM:606519 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma |
OMIM:169550 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia, Micropenis, Pigmentary retinopathy, Cryptorchidism |
OMIM:614230 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi... |
ORPHA:2538 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis |
OMIM:264480 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Cockayne Syndrome |
|
Urinary incontinence, Retinal arteriolar constriction, Retinal degeneration, Hepatomegaly, Retina... |
ORPHA:191 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic... |
OMIM:312870 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Microphthalmia, Lymphopenia, Neutropenia |
OMIM:616395 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma |
ORPHA:1553 |
Steinfeld Syndrome |
|
Microphthalmia, Unilateral renal dysplasia, Retinal coloboma, Absent gallbladder |
OMIM:184705 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Optic atrophy, Hypoplasia of the i... |
OMIM:251300 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Retinal calcification, Microphthalmia, Anemia |
OMIM:127000 |
Cat Eye Syndrome |
|
Renal agenesis, Horseshoe kidney, Chorioretinal coloboma, Vesicoureteral reflux, Microphthalmia, ... |
OMIM:115470 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Microphthalmia, Micrope... |
OMIM:614083 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypopl... |
OMIM:206900 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:2189 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Microphthalmia |
ORPHA:2712 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Anemia, Vitreous hemorrhage, Microphthalmia, Thrombocyto... |
OMIM:620185 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma, Cryptorchidism |
OMIM:619135 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Microphthalmia, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:228390 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Recurrent urinary tract infections |
OMIM:611961 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Microphth... |
OMIM:147791 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Neut... |
ORPHA:193 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Microphthalmia,... |
ORPHA:2059 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Retinal coloboma, Hydronephrosis |
ORPHA:2839 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal optic nerve morp... |
ORPHA:3412 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Cryptorchidism |
ORPHA:404440 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Abnormal... |
ORPHA:508498 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Optic atrophy |
OMIM:234050 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Optic atrophy, Renal cyst, Polycystic ovaries, Microphthalmia, Congen... |
ORPHA:137675 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Hypoplasia of the iris,... |
ORPHA:2092 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the spleen, Cryptorchidism, Optic ... |
ORPHA:2162 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Retinal dystrophy |
OMIM:616538 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Hydronephrosis |
ORPHA:35173 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Penoscrotal transposition, Left ventricular hypertrophy, Microphthalmia |
OMIM:619148 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Microphthalmia, Micropenis, Penile hypospadias |
ORPHA:1692 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal localization... |
ORPHA:2166 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Abnormality of the upper urinary tract, Cryptorchidism, Micr... |
ORPHA:3380 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Hypospadias, Horseshoe kidney |
ORPHA:65286 |
Holoprosencephaly 9 |
|
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... |
OMIM:610829 |
Incontinentia Pigmenti |
|
Retinal detachment, Abnormal chorioretinal morphology, Eosinophilia, Supernumerary nipple, Retina... |
ORPHA:464 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Cryptorchidism, Bilateral microphthalmos |
ORPHA:369891 |
Martsolf Syndrome 1 |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:212720 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Male urethral meatus stenosis, Microphthalmia, Cholelithiasis, Hydronephrosis |
ORPHA:464738 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Supernumerary nipple, Cryptorchidism |
OMIM:612530 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Anophthalmia, Hypospadias, Chorio... |
ORPHA:2556 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Chorioretinal coloboma, Ectopic kidney |
ORPHA:268249 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microphthalmia, Renal hypoplasia, Renal cyst, Cryptorchidism |
OMIM:616300 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Supernumerary nipple |
OMIM:620098 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Microphthalmia, Hydronephrosis, Cryptorchidism |
ORPHA:250989 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos, Abnormal retinal morphology |
OMIM:610758 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Hypoplasia of penis, Cryptorchidism |
ORPHA:284160 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Chorioretinal dysplasia, C... |
ORPHA:534 |
Teebi-Shaltout Syndrome |
|
Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cryptorchidism, Thrombocytopenia, Renal hypoplasia, M... |
OMIM:620005 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Optic atrophy, Renal cyst, Vesicoureteral reflux, Microphthalmia, An... |
OMIM:616975 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Optic atrophy, Hypo... |
OMIM:133540 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Hydronephrosis |
OMIM:302960 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Dubowitz Syndrome |
|
Aplastic anemia, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Acute lymphoblastic leukemi... |
OMIM:223370 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Adams-Oliver Syndrome |
|
Microphthalmia, Thrombocytopenia, Leukopenia |
ORPHA:974 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism... |
ORPHA:468631 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
ORPHA:1791 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Retinal arteriolar tortuosity, Splenomegaly, Cryptorchidism, Opt... |
ORPHA:567 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Pigmentary retinopathy, Chordee, Microphthalmia, Micropenis |
OMIM:309801 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... |
ORPHA:84 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... |
ORPHA:50 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Optic atrophy |
OMIM:618727 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias, Unilateral microphthalmos |
OMIM:618874 |
Acromelic Frontonasal Dysostosis |
|
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Meckel Syndrome 14 |
|
Microphthalmia, Polycystic kidney dysplasia |
OMIM:619879 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Cryptorchidism, Ren... |
OMIM:229850 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysp... |
OMIM:619488 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism |
ORPHA:2250 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic... |
ORPHA:744 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Asplenia, Urethral atresia, Adrenal gland agenesis, Microphthalmia |
OMIM:273395 |
Ohdo Syndrome, X-Linked |
|
Microphthalmia, Micropenis, Cryptorchidism |
OMIM:300895 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma, Ureteral ag... |
ORPHA:141099 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia, Hypoplastic nipples |
OMIM:156610 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Optic atrophy, Horseshoe kidney, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Monosomy 9Q22.3 |
|
Microphthalmia, Nephroblastoma, Ovarian fibroma, Retinopathy |
ORPHA:77301 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Asplenia, Cryptorchidism, Splenomega... |
OMIM:249000 |
Frontorhiny |
|
Microphthalmia, Hypopituitarism |
ORPHA:391474 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Thyroid C cell hyperplasia |
OMIM:300952 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasia, Microph... |
OMIM:253280 |
Chromosome 13Q14 Deletion Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Micropenis, Retinob... |
OMIM:613884 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Thyroid hypoplasia |
ORPHA:861 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Optic disc coloboma, Chorioretinal coloboma, Cryptorchidism |
OMIM:234100 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Optic disc coloboma, Cryptorchidism |
ORPHA:251014 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos, Retinal calcification, Congenital hypoparathyroidism, Decr... |
ORPHA:93325 |
Charge Syndrome |
|
Anophthalmia, Cryptorchidism, Optic atrophy, Horseshoe kidney, Micropenis, Chorioretinal coloboma... |
ORPHA:138 |
Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia |
OMIM:613451 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Cousin Syndrome |
|
Microphthalmia, Hydronephrosis |
OMIM:260660 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Retinal vascular malformation, Ectopic thyroid, Microphtha... |
ORPHA:42775 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Cryptorch... |
OMIM:300166 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Microphthalmia, Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1052 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Abno... |
ORPHA:649 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Optic disc coloboma, Hydrocele testis, Hypoplastic nipples,... |
OMIM:620186 |
Charge Syndrome |
|
Hypoparathyroidism, Anophthalmia, Renal agenesis, Decreased response to growth hormone stimulatio... |
OMIM:214800 |
Trichothiodystrophy |
|
Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Ma... |
ORPHA:33364 |
Aicardi Syndrome |
|
Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Microphthalmia |
OMIM:304050 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, Increased circulating gonadotropin level |
OMIM:110100 |
Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia |
OMIM:259770 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Supernumerary nipple, Cryptorchidism, Optic atrophy, Horsesho... |
OMIM:305600 |
Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Hypermyelinated retinal nerve fibers |
OMIM:601812 |
Roberts Syndrome |
|
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmia, Thrombocytopenia |
ORPHA:3103 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Momo Syndrome |
|
Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Optic atrophy |
OMIM:201180 |
Bartsocas-Papas Syndrome 1 |
|
Bilateral cryptorchidism, Microphthalmia, Micropenis, Ectopic kidney |
OMIM:263650 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia, Supernumerary nipple |
ORPHA:1236 |
Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Cryptorchidism, Horseshoe kidney, Microphthalmia, Micropenis |
OMIM:609945 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Absent gallbladder |
ORPHA:3186 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia |
OMIM:613150 |
Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism |
OMIM:603457 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Micropenis, Absent gallbladder |
OMIM:617925 |
Monosomy 9P |
|
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias, Cryptorchidism |
ORPHA:261112 |
Microcephaly-Micromelia Syndrome |
|
Microphthalmia |
OMIM:251230 |
Fraser Syndrome |
|
Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Ren... |
ORPHA:2052 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... |
OMIM:309000 |
Renpenning Syndrome 1 |
|
Hypospadias, Phimosis, Renal hypoplasia, Microphthalmia, Decreased testicular size |
OMIM:309500 |
Full Nf2-Related Schwannomatosis |
|
Retinal hamartoma, Remnants of the hyaloid vascular system, Abnormal optic nerve morphology, Epir... |
ORPHA:637 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Thyroid hypoplasia, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Cryp... |
ORPHA:672 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Hypospadias, Ureterocele, Cryptorchidism |
OMIM:616734 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of th... |
ORPHA:508488 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Cryptorchidism, Renal hypoplasia, Microphthalmia, Anterior hypop... |
OMIM:607932 |
Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Annular pancreas, Cryptorchidism |
OMIM:268400 |
Oculodentodigital Dysplasia |
|
Microphthalmia, Neurogenic bladder |
OMIM:164200 |
Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Ovarian fibroma, Ovarian carcinoma |
OMIM:109400 |
Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum |
ORPHA:2612 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Adrenal gland dysgenesis, Microphthalmia, Hydronephrosis |
OMIM:236680 |
Holoprosencephaly 2 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Anterior pituitary agenesis, Chorioretin... |
OMIM:157170 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Hypospadias, Renal agenesis, Supernumerary nipple, Cryptorchidism, Renal cyst, Reti... |
OMIM:113620 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia |
ORPHA:364577 |
Yunis-Varon Syndrome |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, Renovascular hypertension, R... |
ORPHA:3472 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Retinal arteriolar tortuosity, Retinal hemorrhage, Hypoplasia of the iris, Peri... |
OMIM:175780 |
Curry-Jones Syndrome |
|
Microphthalmia |
OMIM:601707 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia, Homocystinuria |
OMIM:601552 |
Hallermann-Streiff Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:2108 |
Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Bilateral microphthalmos, Re... |
OMIM:219000 |
Fontaine Progeroid Syndrome |
|
Absent nipple, Cryptorchidism, Hypoplastic nipples, Left ventricular hypertrophy, Microphthalmia,... |
OMIM:612289 |
Lymphedema-Distichiasis Syndrome |
|
Microphthalmia |
OMIM:153400 |
Holoprosencephaly 7 |
|
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism |
OMIM:610828 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Cryptorchidism, Optic disc colo... |
OMIM:309800 |
Mend Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:401973 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Remnants of the hyaloid vascular system |
OMIM:619539 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Asplenia, Cryptorc... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Abnormality of the... |
ORPHA:2152 |
Myhre Syndrome |
|
Microphthalmia, Cryptorchidism |
OMIM:139210 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Webbed penis, Asplenia, Cryptorc... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Hypospadias, Abnormality of the kidney, Supernumerary nipple, Cryptorchidism, Chorioretinal colob... |
OMIM:235730 |
Monosomy 13Q14 |
|
Microphthalmia, Retinoblastoma |
ORPHA:1587 |
Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
Witteveen-Kolk Syndrome |
|
Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, Hypospadias, Ph... |
OMIM:613406 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Cryptorchidism, Long penis, Horseshoe kidney, Polycystic kidney dy... |
OMIM:268300 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia, Renal agenesis, Cryptorchidism |
OMIM:256520 |
Adams-Oliver Syndrome 1 |
|
Microphthalmia, Supernumerary nipple |
OMIM:100300 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia |
OMIM:608670 |
Holoprosencephaly 1 |
|
Microphthalmia, Micropenis |
OMIM:236100 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
Frontofacionasal Dysplasia |
|
Microphthalmia |
OMIM:229400 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux... |
OMIM:164210 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia |
ORPHA:306542 |
Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology |
OMIM:154500 |