Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Stillbirth, Aqueductal stenosis, Abnormal heart morphology |
OMIM:276950 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Microphthalmia, ... |
OMIM:212550 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microcornea, Microphthalmia |
OMIM:251505 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Flexion contracture of thumb, Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis |
OMIM:307000 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Retinal dysplasia, Microphthalmia |
OMIM:615771 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... |
ORPHA:1473 |
L1 Syndrome |
|
Hydrocephalus, Skeletal muscle atrophy, Aqueductal stenosis |
ORPHA:275543 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Brain stem compression, Hydrocephalus, Aqueductal stenosis, Hand muscle atrophy... |
ORPHA:1136 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Retinal dystrophy, Posterior lenticonus, Ir... |
ORPHA:231736 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Macular atrophy, Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Microphtha... |
OMIM:616171 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration, Microphthalmia |
OMIM:251700 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Hepatomegaly, Microcornea, Microphthalmia |
ORPHA:2432 |
Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly, Abnormal heart morphology |
ORPHA:2185 |
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Aqueductal stenosis, Ventriculomegaly |
OMIM:600907 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract, Splenomegaly |
OMIM:619813 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia |
OMIM:604219 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Coloboma, Cataract, Hematuria, Microphthalmia |
OMIM:120433 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Microphthalmia, Shallow anterior chamber, Peripheral retinal avascul... |
OMIM:305390 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology, Microphthalmia |
ORPHA:35612 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... |
ORPHA:891 |
Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... |
OMIM:615382 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract, Microphthalmia |
OMIM:610092 |
Lissencephaly 4 |
|
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature |
OMIM:614019 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Foveal Hypoplasia 2 |
|
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Optic nerve misrouting, Foveal ... |
OMIM:609218 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Microphthalmia, Retinal detachment, Retinal dystrophy, Optic... |
OMIM:251270 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Idiopathic Uveal Effusion Syndrome |
|
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Retinal... |
ORPHA:209956 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Intrauterine growth retardation, Aqueductal stenosis, Arrhinencephaly |
ORPHA:1788 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dys... |
ORPHA:324416 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intrauterine growth retardation, Aqueductal stenosis |
ORPHA:3035 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Increased CSF lactate, Flexion contracture, Ventriculomegaly, Arthrogryposis multiplex congenita,... |
OMIM:618397 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma, Microphthalmia |
OMIM:614497 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Aort... |
OMIM:619895 |
Bowen-Conradi Syndrome |
|
Severe intrauterine growth retardation, Short stature, Severe postnatal growth retardation, Campt... |
ORPHA:1270 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Shallow anterior chamber, Retinal degeneration, Macular atrophy, Mi... |
OMIM:267760 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Agenesis of corpus callosum, Aqueductal stenosis |
ORPHA:1496 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal macular morphology, Abnormal anterior chamber morp... |
ORPHA:190 |
Morm Syndrome |
|
Micropenis, Abnormality of the kidney, Retinal dystrophy, Cataract, Retinal atrophy |
ORPHA:75858 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Bardet-Biedl Syndrome 18 |
|
Cataract, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anomaly, Optic disc colob... |
OMIM:120200 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Galloway-Mowat Syndrome |
|
Camptodactyly of finger, Intrauterine growth retardation, Aqueductal stenosis, Short stature |
ORPHA:2065 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly |
OMIM:604213 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy, Micropenis |
OMIM:610156 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... |
ORPHA:83461 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Ventriculomegaly, Hypoplasia of the brainstem |
OMIM:615763 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Growth delay, Abnormal lateral ventricle morphology, Intrauterine growth retardation |
ORPHA:488635 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilat... |
ORPHA:137902 |
Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Iris coloboma, Abnormal localization of kidney, Hydronephrosis, Microph... |
ORPHA:195 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cardiomegaly, Double out... |
OMIM:306955 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:600348 |
Microcephaly-Cardiomyopathy Syndrome |
|
Short stature, Ventricular septal defect, Dilated cardiomyopathy, Ventriculomegaly, Intrauterine ... |
ORPHA:2515 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Retinal dystrophy,... |
ORPHA:3156 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Coloboma, Uraciluria, Microphthalmia |
OMIM:274270 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Ventriculomegaly, Left atrial enlargement |
OMIM:115210 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:133780 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Corneal opacity, Microphthalmia, Phthisis bulbi, Shallow... |
ORPHA:91495 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Ventriculomegaly, Hypoplasia of the brainstem |
OMIM:618677 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Cataract, Rod-cone... |
OMIM:613801 |
Galactosemia Ii |
|
Cataract, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia |
OMIM:615415 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia |
OMIM:610623 |
Microcephaly 19, Primary, Autosomal Recessive |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:617800 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Nephritis, Retinal neovascularization, Ne... |
OMIM:180080 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Spina bifida, Intrauterine growth retardation |
ORPHA:3412 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia |
OMIM:610023 |
Congenital Rubella Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Aplasia/Hypopla... |
ORPHA:290 |
Masa Syndrome |
|
Camptodactyly of finger, Agenesis of corpus callosum, Ventriculomegaly, Short stature |
ORPHA:2466 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Cataract, Rod-cone dystrophy, Microphthalmia |
OMIM:601794 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia |
OMIM:616947 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Flexion contracture, Muscular dystrophy, Hypoplasia of the pons, Ventriculomegaly,... |
OMIM:613154 |
Microphthalmia, Isolated 6 |
|
Microcornea, Retinal fold, Microphthalmia |
OMIM:613517 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... |
OMIM:309300 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Retinal coloboma, Cataract, Rod-cone dystrophy, Microphthalmia |
ORPHA:363741 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Ventriculomegaly |
OMIM:617051 |
Joubert Syndrome 22 |
|
Coloboma, Renal hypoplasia, Retinal dysplasia, Microphthalmia |
OMIM:615665 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Ventriculomegaly |
ORPHA:329228 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis |
ORPHA:93258 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Cataract, Jaundice |
ORPHA:79238 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Leukopenia, Cho... |
OMIM:617303 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Shallow anterior chambe... |
OMIM:221900 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Ascites, Microphthalmia, Ane... |
ORPHA:858 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Hyperechogenic kidneys, Microphthalmia |
OMIM:617914 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fu... |
OMIM:204000 |
Papillorenal Syndrome |
|
Absence of renal corticomedullary differentiation, Macular degeneration, Morning glory anomaly, H... |
OMIM:120330 |
Pfeiffer Syndrome Type 2 |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:93259 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90654 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, ... |
ORPHA:272 |
Acrofacial Dysostosis 1, Nager Type |
|
Hydrocephalus, Aqueductal stenosis, Short stature, Tetralogy of Fallot, Ventricular septal defect |
OMIM:154400 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Elongated superior cerebellar peduncle, Hydrocephalus, Atrial septal defect, Aqueductal stenosis,... |
OMIM:619512 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Ventriculomegaly, Arthrogryposis multiplex congenita |
OMIM:619501 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia |
OMIM:613094 |
2Q24 Microdeletion Syndrome |
|
Coloboma, Abnormality iris morphology, Cataract, Microphthalmia |
ORPHA:1617 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Short stature |
OMIM:303350 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Ventriculomegaly |
ORPHA:1084 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Flexion contracture, Ventriculomegaly, Hydranencephaly, Intrauterine growth retard... |
OMIM:225790 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ventriculomegaly |
ORPHA:2732 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea, Microphthalmia |
ORPHA:2528 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia, Microphthalmia |
OMIM:614830 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem |
ORPHA:250972 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Ventriculomegaly, Atrophy/Degeneration affecting the brainstem, Short stature |
OMIM:617862 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Microphthalmia |
ORPHA:1466 |
Lissencephaly 1 |
|
Ventriculomegaly, Hypoplasia of the brainstem |
OMIM:607432 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:500166 |
Alexander Disease |
|
Facial palsy, Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis |
ORPHA:58 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration |
OMIM:618195 |
Microphthalmia, Syndromic 5 |
|
Micropenis, Optic nerve hypoplasia, Anophthalmia, Microcornea, Retinal dystrophy, Coloboma, Catar... |
OMIM:610125 |
Combined Saposin Deficiency |
|
Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... |
OMIM:615113 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Microphthal... |
OMIM:610256 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Ventriculomegaly |
ORPHA:1980 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Ventriculomegaly, Short stature |
ORPHA:3207 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Hypoplasia of the fovea, Microcornea, Peters anomaly, Rieger anomaly, Hypo... |
OMIM:604229 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract |
OMIM:273680 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy, Ventriculomegaly |
OMIM:613402 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis |
ORPHA:93260 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Short stature, Camptodactyly of finger, Ventricular septal defect, Ventricu... |
ORPHA:1388 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Nephrotic syndrome, Microphthalmia, Diffuse mesangial sc... |
OMIM:609049 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Facial hypotonia, Ventriculomegaly |
OMIM:618383 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Cataract, Cor... |
OMIM:193230 |
Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly |
OMIM:612691 |
Microphthalmia, Syndromic 13 |
|
Coloboma, Microcornea, Microphthalmia |
OMIM:300915 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:171703 |
Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Intrauterine growth retardation, Ventriculomegaly |
OMIM:247990 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple renal cysts,... |
ORPHA:464329 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Limb hypertonia, Lower limb amyotrophy |
ORPHA:401815 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Neurofibromatosis, Type I |
|
Hydrocephalus, Aqueductal stenosis, Short stature, Rhabdomyosarcoma, Spina bifida |
OMIM:162200 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities |
|
Ventriculomegaly, Hypoplasia of the brainstem |
OMIM:616486 |
Spondylometaphyseal Dysplasia, Axial |
|
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Cone/cone-rod dystrophy, Optic atrophy |
OMIM:602271 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Left ventricular hypertrophy, Retinal detachment, Coloboma, Cataract, Microphtha... |
OMIM:613153 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
Oculoauricular Syndrome |
|
Microphakia, Microphthalmia, Phthisis bulbi, Rod-cone dystrophy, Retinal coloboma, Morning glory ... |
OMIM:612109 |
Bonnemann-Meinecke-Reich Syndrome |
|
Ventriculomegaly, Short stature |
ORPHA:1261 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Microphthalmia, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism... |
OMIM:152950 |
Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Ventriculomegaly |
OMIM:617557 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Camptodactyly of finger, Flexion contracture of toe, Ventriculomegaly |
OMIM:619323 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Microphthalmia |
OMIM:278780 |
Biemond Syndrome Type 2 |
|
Hypospadias, Coloboma, Microphthalmia |
ORPHA:141333 |
Developmental And Epileptic Encephalopathy 54 |
|
Ventriculomegaly |
OMIM:617391 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Aqueductal stenosis, Holoprosencephaly, Short stature, Abnorm... |
ORPHA:138 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Ventriculomegaly, Hypoplasia of the brainstem |
OMIM:618730 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
OMIM:257910 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... |
ORPHA:206559 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea |
OMIM:269400 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Colpocephaly, Agenesis of corpus callosum, ... |
OMIM:618651 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Cataract, Bilateral microphthalmos |
OMIM:608763 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... |
OMIM:608836 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Ventriculomegaly, Short stature |
OMIM:608716 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Retinal dystrophy, Polycystic kidney dysplasia, Cataract, Microcoria |
OMIM:263100 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Cataract, Ectopic kidney |
OMIM:613730 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventriculomegaly, Short stature |
OMIM:617090 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Lissencephaly 3 |
|
Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the brainstem |
OMIM:611603 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Nance-Horan Syndrome |
|
Retinal detachment, Cataract, Microcornea, Microphthalmia |
ORPHA:627 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Bilateral renal hypoplasia, Accessory spleen, Microcornea, Retinal vascul... |
OMIM:243605 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Pettigrew Syndrome |
|
Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly, Flexion contracture |
OMIM:304340 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Cataract, Microphthalmia, Hepatic steatosis |
OMIM:618805 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Abnormal retinal morphology on macular OCT, Macroscopic hematuria, Mem... |
ORPHA:251004 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Cataract, Microphthalmia |
OMIM:615181 |
Microhydranencephaly |
|
Multiple joint contractures, Short stature, Ventriculomegaly, Growth delay, Hydranencephaly, Skel... |
OMIM:605013 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Intrauterine growth retardation, Hydrocephalus, Short stature, Distal arthrogryposis, Ventriculom... |
OMIM:619833 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Splenomegaly, Retinopathy, Cataract, Renal insufficiency, Mi... |
ORPHA:773 |
Developmental And Epileptic Encephalopathy 97 |
|
Ventriculomegaly |
OMIM:619561 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Flexion contracture... |
ORPHA:79243 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Growth delay, Ventriculomegaly |
OMIM:617613 |
Epilepsy, Progressive Myoclonic, 9 |
|
Ventriculomegaly, Generalized amyotrophy |
OMIM:616540 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatocellular... |
OMIM:232200 |
Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Intrauterine growth retardation, Ventriculomegaly |
OMIM:610333 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Microphthalmia, Sclerocorn... |
ORPHA:139471 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Hypoplasia of the bladder, Renal dysplasia, Iris coloboma, Renal hypoplas... |
ORPHA:85284 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmi... |
OMIM:615145 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ventriculomegaly |
OMIM:613925 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Short stature, Colpocephaly, Ventricular septal defect, Patent foramen oval... |
OMIM:609053 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Aniridia, Ectopia lentis, Cataract |
ORPHA:1068 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... |
ORPHA:370980 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, ... |
ORPHA:370959 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... |
ORPHA:731 |
Faciothoracogenital Syndrome |
|
Glandular hypospadias, Microphthalmia |
OMIM:227320 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:85179 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation, Short stature |
ORPHA:262767 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Abnormality of retinal pigmentation, Hepatosplenomegaly, Leukopenia, Heparan ... |
ORPHA:505248 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Muscular dystrophy, Anencephaly, Ventriculomegaly, Occipital encephalocele, Agenes... |
OMIM:615287 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... |
OMIM:200995 |
Warburg Micro Syndrome 1 |
|
Optic atrophy, Developmental cataract, Microcornea, Microphthalmia |
OMIM:600118 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Abnormal muscle fiber morphology, Joint contracture of the hand, Camptodactyly of ... |
OMIM:175700 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, R... |
ORPHA:2470 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Lissencephaly 8 |
|
Optic atrophy, Cataract, Microphthalmia |
OMIM:617255 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Ventriculomegaly |
ORPHA:1568 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Severe postnatal growth retardation, Dilated fourth ventricle, Ventricular septal defect, Lateral... |
ORPHA:3078 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Disproportionate short-limb short stature, Hypoplastic left heart, Ventricular septal defect, Ven... |
ORPHA:2772 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Microlissencephaly |
|
Ventriculomegaly |
ORPHA:1083 |
Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphol... |
ORPHA:2788 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Ventriculomegaly |
OMIM:618228 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hydrocephalus, Secundum atrial septal defect, Primum atrial septal defect, Aqueductal stenosis, A... |
OMIM:619534 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Camptodactyly of finger, Ventriculomegaly, Growth delay, Intrauterine growth retar... |
ORPHA:1495 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Slc35A2-Cdg |
|
Short stature, Camptodactyly of finger, Tetralogy of Fallot, Atrophy/Degeneration affecting the b... |
ORPHA:356961 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... |
OMIM:608022 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Trisomy 13 |
|
Abnormal retinal vascular morphology, Abnormality of the ureter, Anophthalmia, Multiple renal cys... |
ORPHA:3378 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Hypoplasia of the pons, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617669 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus |
OMIM:615219 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor... |
OMIM:611490 |
H Syndrome |
|
Histiocytosis, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Microc... |
ORPHA:168569 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Thrombocytopenia... |
OMIM:607616 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anem... |
OMIM:603552 |
Adams-Oliver Syndrome 2 |
|
Optic atrophy, Developmental cataract, Microphthalmia |
OMIM:614219 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Ventriculomegaly, Flexion contracture |
OMIM:617977 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Abnormal cardiac septum morphology, Ventriculomegaly, Umbilical hernia, Hypoplasia of the brainstem |
OMIM:618354 |
Developmental And Epileptic Encephalopathy 59 |
|
Ventriculomegaly |
OMIM:617904 |
Walker-Warburg Syndrome |
|
Corneal opacity, Microphthalmia, Hypoplasia of penis, Retinal detachment, Anophthalmia, Microcorn... |
ORPHA:899 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:601813 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma, Optic atrophy, Microcytic anemia, Cataract, Microphthalmia |
OMIM:612379 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Retinal coloboma, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney, As... |
ORPHA:500095 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Ventriculomegaly, Umbil... |
OMIM:618164 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Horseshoe kidney, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma |
OMIM:619318 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Ventriculomegaly |
OMIM:617190 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... |
OMIM:165550 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated urinary delta-aminolevu... |
OMIM:276700 |
Gracile Bone Dysplasia |
|
Micropenis, Hypoplastic spleen, Microphthalmia, Ascites, Aniridia, Asplenia |
OMIM:602361 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Abnormal pons morphology, H... |
ORPHA:370968 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... |
OMIM:615559 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Abnormally large globe, Coloboma, Cataract, Microphthalmia |
OMIM:615249 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice |
OMIM:620010 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... |
ORPHA:449395 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Abnormal brainstem ... |
ORPHA:255182 |
Isolated Aniridia |
|
Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula, Cataract |
ORPHA:250923 |
Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:77299 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Ventriculomegaly, Increased CSF protein |
OMIM:611722 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... |
ORPHA:1046 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation, Cataract, Microphthalmia |
ORPHA:85194 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Knee flexion contracture, Limb joint contracture, Ankle flexion con... |
ORPHA:284417 |
Thanatophoric Dysplasia Type 2 |
|
Hydrocephalus, Atrial septal defect, Short stature, Holoprosencephaly, Ventriculomegaly, Encephal... |
ORPHA:93274 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Sialidosis Type 2 |
|
Corneal opacity, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Nephropathy, Ascites |
ORPHA:87876 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Muscular dystrophy, Hypoplasia of the pons, Ventriculomegaly |
OMIM:613151 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Urinary excret... |
OMIM:256550 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... |
OMIM:312600 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Flexion contracture, Ventriculomegaly |
OMIM:618291 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Cornelia De Lange Syndrome 2 |
|
Short stature, Ventriculomegaly, Postnatal growth retardation, Hypertrophic cardiomyopathy, Intra... |
OMIM:300590 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Short stature, Ventricular septal defect, Ventriculomegaly, Agenesis of corpus cal... |
OMIM:218350 |
Cach Syndrome |
|
Abnormal pons morphology, Flexion contracture, Atrophy/Degeneration affecting the brainstem, Late... |
ORPHA:135 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Temtamy Syndrome |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma |
ORPHA:1777 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Sclerocornea, Microphthalmia |
OMIM:611038 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Ventriculomegaly, Short stature |
OMIM:300699 |
Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of corpus callosum, Abnormal brain... |
ORPHA:300573 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Cataract, Renal... |
OMIM:203780 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
3-Hydroxyisobutyric Aciduria |
|
Intrauterine growth retardation, Ventriculomegaly |
ORPHA:939 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Tetralogy of Fallot, Ventricular se... |
ORPHA:1908 |
Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Developmental cataract, ... |
ORPHA:335 |
Thanatophoric Dysplasia |
|
Disproportionate short-limb short stature, Hydrocephalus, Atrial septal defect, Ventriculomegaly,... |
ORPHA:2655 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... |
OMIM:615986 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... |
ORPHA:1120 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Ventriculomegaly |
OMIM:617290 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Severe short stature, Ventriculomegaly |
OMIM:225755 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Increased CSF lactate, Ventriculomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy, In... |
OMIM:619051 |
Otodental Syndrome |
|
Retinal coloboma, Microcornea, Iris coloboma, Cataract, Microphthalmia, Lens coloboma |
ORPHA:2791 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Microcornea, Optic at... |
ORPHA:2510 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Ventriculomegaly, Hypomimic face |
OMIM:619701 |
Warburg Micro Syndrome 3 |
|
Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Cataract, Developmental catarac... |
OMIM:614222 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Knee flexion contracture, Ventriculomegaly, Arthrogryposis ... |
OMIM:616531 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Developmental cataract, Microphthalmia, Cataract, Micropenis |
OMIM:610756 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Facial hypotonia, Hydrocephalus, Ventriculomegaly, Congenital muscular torticollis, Intrauterine ... |
OMIM:616355 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Lymphoid Interstitial Pneumonia |
|
Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb hypertonia, Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly, Intrau... |
ORPHA:572798 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Ventriculomegaly, Molar tooth sign on MRI |
OMIM:617127 |
Warburg Micro Syndrome 2 |
|
Micropenis, Microcornea, Optic atrophy, Cataract, Developmental cataract, Microphthalmia |
OMIM:614225 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elongated superior cerebellar peduncle, Rhizomelic leg shortening, Short stature, Colpocephaly, D... |
ORPHA:397715 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:612285 |
Developmental And Epileptic Encephalopathy 70 |
|
Ventriculomegaly, Flexion contracture |
OMIM:618298 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Abnormality of the blad... |
ORPHA:2547 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Neurooculocardiogenitourinary Syndrome |
|
Peters anomaly, Coloboma, Cardiomegaly, Microphthalmia |
OMIM:618652 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Ventriculomegaly, Intrauterine grow... |
ORPHA:48431 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Cataract, Leukocoria |
ORPHA:2714 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Intermediate Uveitis |
|
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Tubulointerstitial nephri... |
ORPHA:279914 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Mevalonic Aciduria |
|
Cataract, Splenomegaly |
ORPHA:29 |
Mulibrey Nanism |
|
Myocardial fibrosis, Short stature, Ventriculomegaly, Growth delay, Intrauterine growth retardati... |
OMIM:253250 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... |
OMIM:614866 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia... |
ORPHA:79312 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Ventriculomegaly, Flexion contracture, Short stature |
OMIM:614066 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Coach Syndrome 1 |
|
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... |
OMIM:216360 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Skraban-Deardorff Syndrome |
|
Ventriculomegaly |
OMIM:617616 |
Joubert Syndrome 14 |
|
Morning glory anomaly, Renal cyst, Coloboma, Microphthalmia |
OMIM:614424 |
Microphthalmia, Lenz Type |
|
Renal hypoplasia/aplasia, Hypospadias, Hydroureter, Microcornea, Optic disc coloboma, Iris colobo... |
ORPHA:568 |
Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Ventriculomegaly |
ORPHA:168624 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Astigmatism, Optic atrophy, Peters anomaly, Iris coloboma, Microphthalmia, Vesicoure... |
ORPHA:494344 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Shoulder ... |
OMIM:606612 |
Alg3-Cdg |
|
Macroglossia, Hypoplasia of the pons, Neural tube defect, Arthrogryposis multiplex congenita, Car... |
ORPHA:79321 |
Pierpont Syndrome |
|
Microphthalmia, Microcornea, Micropenis |
OMIM:602342 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Cataract, Hypoplasia of penis, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Autosomal Recessive Primary Microcephaly |
|
Growth delay, Agenesis of corpus callosum, Ventriculomegaly, Short stature |
ORPHA:2512 |
Trisomy 5P |
|
Ventriculomegaly, Short stature |
ORPHA:1742 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia, Hepatomegaly, Microphthalmia |
OMIM:619053 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Growth delay, Ventriculomegaly, Short stature |
OMIM:616116 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... |
ORPHA:79301 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Khan-Khan-Katsanis Syndrome |
|
Flexion contracture, Short stature, Colpocephaly, Patent foramen ovale, Intrauterine growth retar... |
OMIM:618460 |
Fish-Eye Disease |
|
Corneal opacity, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Astigmatism, Cataract, Microphthalmia |
OMIM:619694 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Microcornea, Optic atrophy, Iris coloboma, Cataract, Septo-optic dy... |
ORPHA:3301 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Cataract, Microcornea |
OMIM:106230 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Oligosacchariduria, Retinal detachment, Cataract, Microphthalmia, Hypopigmentation of the fundus |
ORPHA:163649 |
Cataract 47 |
|
Glycosuria, Cataract, Microcornea |
OMIM:612018 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased CSF lactate, Congenital foot contractures, Limb hypertonia, Atrophy/Degeneration affect... |
ORPHA:565624 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Ventriculomegaly, Flexion contracture |
OMIM:619851 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Growth delay, Atrial septal defect, Joint contracture of the hand,... |
OMIM:179613 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Hyperechogenic kidneys, Microphthalmia |
OMIM:613885 |
Amish Lethal Microcephaly |
|
Limb hypertonia, Spina bifida, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:99742 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis, Splenomegaly, Chole... |
OMIM:615630 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma, Optic disc coloboma, Microphthalmia |
OMIM:169550 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Ventriculomegaly |
OMIM:618251 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem |
ORPHA:420179 |
Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Microphthalmia |
OMIM:609054 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased CSF lactate, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:312170 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Ectopia pupillae, Anophthalmia, Microcornea, Coloboma, Cataract, Microphthalmia, Scl... |
OMIM:615877 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Meckel Syndrome |
|
Urethral atresia, Pancreatic fibrosis, Multicystic kidney dysplasia, Ureteral duplication, Access... |
ORPHA:564 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Hypoplasia of the brainstem, Ventriculomegaly, Short stature |
OMIM:618273 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Ventriculomegaly |
ORPHA:2643 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventriculomegaly |
ORPHA:1188 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... |
OMIM:614643 |
Endocrine-Cerebroosteodysplasia |
|
Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Microphallus |
OMIM:612651 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy, Ventriculomegaly |
OMIM:618241 |
Gyrate Atrophy Of Choroid And Retina |
|
Subcapsular cataract, Chorioretinal hyperpigmentation, Aminoaciduria, Abnormal macular morphology... |
ORPHA:414 |
Acro-Renal-Ocular Syndrome |
|
Bladder diverticulum, Renal hypoplasia/aplasia, Crossed fused renal ectopia, Microcornea, Optic d... |
ORPHA:959 |
1Q44 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Short stature, Ventriculomegaly, Growth delay,... |
ORPHA:238769 |
Frontonasal Dysplasia 1 |
|
Coloboma, Cataract, Microphthalmia |
OMIM:136760 |
Kapur-Toriello Syndrome |
|
Retinal coloboma, Iris coloboma, Hypoplasia of penis, Microphthalmia |
ORPHA:2328 |
Congenital Sialidosis Type 2 |
|
Corneal opacity, Hepatomegaly, Cherry red spot of the macula, Abnormality of the kidney, Hepatosp... |
ORPHA:93400 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Alobar holoprosencephaly, Ventriculomegaly |
OMIM:615433 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Ventriculomegaly, Short stature |
ORPHA:261295 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Short stature, Ventricular ... |
OMIM:309801 |
Peho-Like Syndrome |
|
Ventriculomegaly |
OMIM:617507 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Absent extraocular muscles, Hydrocephalus, Short stature, Ventriculomegaly, Agenesis of corpus ca... |
OMIM:109120 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Mitral stenosis, Short stature, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum |
OMIM:617260 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, ... |
ORPHA:585 |
|