Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly |
OMIM:615041 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Stillbirth, Abnormal heart morphology |
OMIM:276950 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil... |
OMIM:619902 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
L1 Syndrome |
|
Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus |
ORPHA:275543 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Frontal Encephalocele |
|
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Macrocephaly, Aplasia/Hypopla... |
ORPHA:1931 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... |
ORPHA:1473 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly |
ORPHA:2432 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology |
ORPHA:2185 |
Lissencephaly 4 |
|
Growth delay, Colpocephaly, Agenesis of corpus callosum, Short stature |
OMIM:614019 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:3035 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystrophy |
OMIM:615995 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Parti... |
OMIM:619895 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum |
ORPHA:1496 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Cataract, Ectopic kidney, Microphthalmia, Cystic renal dysplasia |
OMIM:613730 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Ventriculomegaly |
OMIM:304340 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation, Short stature, Camptodactyly of finger |
ORPHA:2065 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
Congenital Herpes Simplex Virus Infection |
|
Hydranencephaly, Intrauterine growth retardation, Microcephaly |
ORPHA:293 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... |
ORPHA:324416 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Intrauterine growth retardation |
ORPHA:1788 |
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 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Bowen-Conradi Syndrome |
|
Short stature, Camptodactyly of finger, Severe postnatal growth retardation, Severe intrauterine ... |
ORPHA:1270 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Spastic Paraplegia 88, Autosomal Dominant |
|
Hypoplasia of the brainstem, Lower limb muscle weakness, Ventriculomegaly |
OMIM:620106 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Intrauterine growth retardation, Neonatal death |
OMIM:251230 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:604213 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... |
OMIM:616171 |
Porencephaly |
|
Ventriculomegaly |
ORPHA:2940 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Gómez-López-Hernández Syndrome |
|
Turricephaly, Cerebellar vermis hypoplasia, Short stature, Hydrocephalus, Brachycephaly, Midface ... |
ORPHA:1532 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Cerebral Palsy, Spastic Quadriplegic, 2 |
|
Ventriculomegaly |
OMIM:612900 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Ventriculomegaly |
OMIM:618677 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Growth delay, Intrauterine growth retardation, Abnormal lateral ventricle morphology |
ORPHA:488635 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Chorioretinal coloboma... |
ORPHA:195 |
Neurooculorenal Syndrome |
|
Dextrocardia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosu... |
OMIM:620305 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Cortical Dysplasia, Complex, With Other Brain Malformations 5 |
|
Hypoplasia of the brainstem, Ventriculomegaly |
OMIM:615763 |
Microcephaly-Cardiomyopathy Syndrome |
|
Short stature, Ventricular septal defect, Dilated cardiomyopathy, Intrauterine growth retardation... |
ORPHA:2515 |
Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Microcephaly 19, Primary, Autosomal Recessive |
|
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly |
OMIM:617800 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria, Optic atrophy, Coloboma |
OMIM:274270 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Ventriculomegaly |
OMIM:115210 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Congenital hepatic fibrosis, Ch... |
ORPHA:3156 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly |
OMIM:614870 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Abnormality of the kidney, Cataract, Micropenis |
ORPHA:75858 |
Masa Syndrome |
|
Short stature, Agenesis of corpus callosum, Camptodactyly of finger, Ventriculomegaly |
ORPHA:2466 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Thrombocytopenia, S... |
ORPHA:290 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis |
ORPHA:93258 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert... |
OMIM:208540 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Lateral ventricle dilatation, Ventricular septal defect, Increased variability in muscl... |
OMIM:616816 |
Craniosynostosis 6 |
|
Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Parietal foramina, Brach... |
OMIM:616602 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Agenesis of corpus callosum,... |
OMIM:616570 |
Galactosemia Ii |
|
Cataract, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp... |
ORPHA:858 |
Joubert Syndrome 22 |
|
Microphthalmia, Retinal dysplasia, Coloboma, Renal hypoplasia |
OMIM:615665 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract |
OMIM:601794 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Aqueductal stenosis, Hypoplasia of the pons, Hydrocephalus, Partial agenesis of the corpus callos... |
OMIM:619512 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Chorioretin... |
OMIM:617303 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Flat occiput, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the ... |
OMIM:618736 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... |
OMIM:616034 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract |
ORPHA:363741 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:300915 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... |
ORPHA:272 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, B... |
OMIM:221900 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H... |
OMIM:204000 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Ventriculomegaly And Arthrogryposis |
|
Arthrogryposis multiplex congenita, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:619501 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Ventriculomegaly |
ORPHA:1084 |
Masa Syndrome |
|
Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:303350 |
2Q24 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma |
ORPHA:1617 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthalmos, Anemia |
OMIM:615085 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Alexander Disease |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Facial palsy |
ORPHA:58 |
Cofs Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:1466 |
Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect, Short stature |
OMIM:618330 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Polymicrogyria, Bilateral Temporooccipital |
|
Ventriculomegaly |
OMIM:612691 |
Lissencephaly 1 |
|
Hypoplasia of the brainstem, Ventriculomegaly |
OMIM:607432 |
Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis |
ORPHA:93260 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Diffuse cerebral atrophy, Flat occiput, Microcephaly, Brachycephaly, Plagiocephaly |
ORPHA:2898 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the brainstem |
ORPHA:250972 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea, Coloboma, Microph... |
OMIM:610125 |
Neurofibromatosis, Type I |
|
Short stature, Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus |
OMIM:162200 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Aqueductal stenosis, H... |
OMIM:154400 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
Microcephaly, Seizures, And Developmental Delay |
|
Skeletal muscle atrophy, Ventriculomegaly |
OMIM:613402 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi... |
OMIM:232220 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... |
OMIM:616108 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Ventriculomegaly |
ORPHA:1980 |
Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Joint contracture, Hypoplasia of the brainstem |
OMIM:618266 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Short stature, Ventriculomegaly |
ORPHA:3207 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ... |
OMIM:609049 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Dysplastic corpus callosum, Ventriculomegaly |
ORPHA:500166 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Coloboma, Left ventricular hypertrophy, Microphtha... |
OMIM:613153 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:171703 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Sporadic Fetal Brain Disruption Sequence |
|
Prominent occiput, Plagiocephaly, Cerebral cortical atrophy, Microcephaly |
ORPHA:1665 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Catel-Manzke Syndrome |
|
Short stature, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Ventricu... |
ORPHA:1388 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Lower limb amyotrophy, Limb hypertonia |
ORPHA:401815 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Flexion contracture of toe, Camptodactyly of finger, Ventriculomegaly |
OMIM:619323 |
Macdermot-Winter Syndrome |
|
Intrauterine growth retardation, Camptodactyly of finger, Ventriculomegaly |
OMIM:247990 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Brachycephaly, Craniosynostosis |
OMIM:614416 |
Charge Syndrome |
|
Short stature, Facial palsy, Aqueductal stenosis, Postnatal growth retardation, Abnormal cardiac ... |
ORPHA:138 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Short stature, Camptodactyly of finger, Camptodactyly |
OMIM:619420 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Partial agenesis of the corpus callosum, Abnormal CSF pyruvate family ... |
ORPHA:79243 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypoplasia of the brainstem, Ventriculomegaly |
OMIM:618730 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract |
OMIM:278780 |
Aplasia Cutis Congenita |
|
Calvarial skull defect, Spinal dysraphism |
ORPHA:1114 |
Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Short stature, Hydrocephalus, Brachycephaly, Hypoplasia of the corpus callosum, ... |
OMIM:218350 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain di... |
OMIM:608836 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Hypospadias, Coloboma |
ORPHA:141333 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Bonnemann-Meinecke-Reich Syndrome |
|
Short stature, Ventriculomegaly |
ORPHA:1261 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Ventricular septal defect, Bicuspid aortic valve, Lateral ventricle dil... |
OMIM:617751 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Facial hypotonia, Ventriculomegaly |
OMIM:618383 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Short stature, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:608716 |
Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Microphthalmia, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Agenesis of corpu... |
OMIM:615219 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... |
OMIM:243605 |
Epilepsy, Progressive Myoclonic, 9 |
|
Agenesis of corpus callosum, Generalized amyotrophy, Ventriculomegaly |
OMIM:616540 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Short stature, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
OMIM:617862 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal retinal morphology on macular OCT... |
ORPHA:251004 |
Pontocerebellar Hypoplasia, Type 1A |
|
Spinal muscular atrophy, Hypoplasia of the pons, Hypoplasia of the ventral pons, Lateral ventricl... |
OMIM:607596 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Microcytic anemia, Microphthalmia, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Colpocephaly, Perimembranous ventricular se... |
OMIM:618651 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Hypoplasia of the corpus cal... |
OMIM:618577 |
Nance-Horan Syndrome |
|
Retinal detachment, Microphthalmia, Cataract, Microcornea |
ORPHA:627 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... |
OMIM:615145 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... |
OMIM:618619 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Splenomegaly, Microphthalmia,... |
ORPHA:773 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Lipemia retinalis, Nephrolithias... |
OMIM:232200 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Agenesis of corpus callosum, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
OMIM:620200 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylati... |
ORPHA:370959 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Hypoplasia of the brainstem, Short stature, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617090 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Growth delay, Ventriculomegaly |
OMIM:617613 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, G... |
OMIM:612863 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Agenesis of cerebellar vermis, Brachycephaly, Intrauterine growth... |
ORPHA:228390 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma |
ORPHA:882 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic... |
ORPHA:139471 |
Lissencephaly 3 |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:611603 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Atrial septal defect, Elongated s... |
OMIM:608629 |
Intellectual Developmental Disorder, X-Linked 103 |
|
Lateral ventricle dilatation |
OMIM:300982 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Growth delay, Colpocephaly, Congenital contracture, Agenesis of corpus callosum, V... |
OMIM:620156 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Colpocephaly, Distal arthrogryposis, Intrauterine growth retardatio... |
OMIM:619833 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Renal hypoplasia, Vesicourete... |
ORPHA:85284 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Aicardi-Goutieres Syndrome 4 |
|
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis |
OMIM:610333 |
Microhydranencephaly |
|
Skeletal muscle atrophy, Multiple joint contractures, Short stature, Growth delay, Hypoplasia of ... |
OMIM:605013 |
Lissencephaly 8 |
|
Microphthalmia, Cataract, Optic atrophy |
OMIM:617255 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Lateral ventricle dila... |
OMIM:618291 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Thrombocyto... |
ORPHA:505248 |
Warburg Micro Syndrome 1 |
|
Microcornea, Microphthalmia, Optic atrophy, Developmental cataract |
OMIM:600118 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele |
ORPHA:1528 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hypoplasia of the musculature, Hydrocephalus, Hypoplasia of the brainstem, Hydr... |
OMIM:225790 |
Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Lateral ventricle dilatation, Atrophy/Degeneration affecting the brainstem |
ORPHA:77299 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Hydrocephalus, Abnormal heart morphology, Camptodactyly of toe,... |
OMIM:175700 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Ankle flexion contracture, Knee flexion contracture, Lateral ventricle di... |
ORPHA:284417 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cor triatriatum, Ventricular septal defect, Dextrocardia, Short stature, Situs inversus totalis, ... |
OMIM:619534 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:85179 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... |
ORPHA:2788 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Ventriculomegaly |
ORPHA:1568 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal sp... |
ORPHA:2470 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Subependymal cysts, Lateral ventricle dilatation, Neonatal death, Camptodact... |
OMIM:610015 |
Cach Syndrome |
|
Flexion contracture, Growth delay, Lateral ventricle dilatation, Abnormal pons morphology, Atroph... |
ORPHA:135 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre... |
OMIM:276700 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:613443 |
Trisomy 13 |
|
Anophthalmia, Cataract, Displacement of the urethral meatus, Abnormal retinal vascular morphology... |
ORPHA:3378 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of corpus callosum, Abnormal brain... |
ORPHA:300573 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Spinal dysra... |
ORPHA:1908 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Camptodactyly of finger, Growth delay, Intrauterine growth retardation, Ventriculo... |
ORPHA:1495 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Disproportionate short-limb short stature, Int... |
ORPHA:2772 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Corneal arcus,... |
ORPHA:168569 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Patent foramen ovale, Colpocephaly, Atrial septal defec... |
OMIM:609053 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... |
ORPHA:899 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Microcytic anemia, Optic atrophy, Coloboma, Microphthalmia |
OMIM:612379 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ... |
OMIM:603552 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Flexion contracture, Lateral ventricle d... |
OMIM:613154 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Slc35A2-Cdg |
|
Short stature, Abnormal midbrain morphology, Limb joint contracture, Camptodactyly of finger, Abn... |
ORPHA:356961 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Increased head circumferenc... |
ORPHA:268810 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:602501 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop... |
ORPHA:500095 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:306669 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Severe postnatal growth retardation, Lateral... |
ORPHA:3078 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration |
OMIM:615249 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Short stature, Brachycephaly |
ORPHA:1514 |
Alg3-Cdg |
|
Cerebral white matter atrophy, Microcephaly, Hypoplasia of the pons, Neural tube defect, Subcorti... |
ORPHA:79321 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy, Cataract |
OMIM:614284 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology, Increased CSF lactate, Abnormal CSF pyruvate family amino acid con... |
ORPHA:255182 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Cataract, Retinal pigment epithelial mottling, Methylmalo... |
OMIM:614105 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentation |
ORPHA:85194 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation |
OMIM:615889 |
Temtamy Syndrome |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma |
ORPHA:1777 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites |
OMIM:602361 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:304100 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventriculom... |
ORPHA:93274 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney |
OMIM:619318 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short stature, Craniosynostosis, Microcephaly, Brachycephaly, Plagiocephaly, Holoprosencephaly |
ORPHA:2163 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro... |
OMIM:256550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Retinal dystrophy, Developmental cataract |
OMIM:613155 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Short stature, Postnatal growth retardation, Partial agenesis of the c... |
OMIM:620113 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation |
OMIM:600721 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, Abnormal local... |
ORPHA:2510 |
Cornelia De Lange Syndrome 2 |
|
Short stature, Postnatal growth retardation, Intrauterine growth retardation, Hypertrophic cardio... |
OMIM:300590 |
Congenital Fibrinogen Deficiency |
|
Splenic rupture, Developmental cataract, Left ventricular hypertrophy, Microphthalmia, Micropenis... |
ORPHA:335 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly |
OMIM:618731 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Hypoplasia of the pons, Congenital muscular dystrophy, Muscular dystrophy, Ventriculomegaly |
OMIM:613151 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Small thenar eminence, Lateral ventricle dilatation, Joint contracture of the 4th finger, Joint c... |
OMIM:618914 |
3-Hydroxyisobutyric Aciduria |
|
Intrauterine growth retardation, Ventriculomegaly |
ORPHA:939 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... |
OMIM:203780 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Increased CSF lactate, Intrauterine growth retardation, Hy... |
OMIM:619051 |
Hemimegalencephaly |
|
Pachygyria, Cranial asymmetry, Hemimegalencephaly, Macrocephaly, Hyperintensity of cerebral white... |
ORPHA:99802 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Renal insufficiency, Astigmatism, Rod-cone dys... |
OMIM:615986 |
Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation, Limb hypertonia |
OMIM:614219 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Short stature, Dextrotransposition of the great arteries, Lateral vent... |
OMIM:619995 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Anomalous pulmonary venous ... |
ORPHA:1120 |
Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Peters anomaly, Coloboma, Cardiomegaly |
OMIM:618652 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Pancreatitis... |
ORPHA:79312 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation |
OMIM:617668 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microcornea, Microphthalmia, Cataract |
ORPHA:48431 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Houge-Janssens Syndrome 1 |
|
Congenital muscular torticollis, Facial hypotonia, Hydrocephalus, Intrauterine growth retardation... |
OMIM:616355 |
Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
Thanatophoric Dysplasia |
|
Hydrocephalus, Disproportionate short-limb short stature, Atrial septal defect, Intrauterine grow... |
ORPHA:2655 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Micropenis, Cataract, Developmental cataract |
OMIM:610756 |
Intermediate Uveitis |
|
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... |
ORPHA:279914 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad... |
ORPHA:2547 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Vesicoureteral r... |
ORPHA:494344 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:612285 |
Microphthalmia, Lenz Type |
|
Cataract, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Optic disc coloboma, Microcornea, H... |
ORPHA:568 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia, Micropenis |
OMIM:602342 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
Mulibrey Nanism |
|
Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constriction, Intraut... |
OMIM:253250 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Ventriculomegaly, Knee ... |
OMIM:616531 |
Xk Aprosencephaly Syndrome |
|
Microphthalmia |
ORPHA:3469 |
Coach Syndrome 1 |
|
Optic disc pallor, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen... |
OMIM:216360 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Astigmatism, Cataract |
OMIM:619694 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Cataract, Oligosacchariduria, Microphthalmia, Hypopigmentation of the fundus |
ORPHA:163649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Ketonuria, Renal hypoplasia, Hepatomegaly |
OMIM:619053 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney, Splenic cyst |
OMIM:618188 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Optic atrophy, Microcornea, Microp... |
ORPHA:3301 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Bilateral Generalized Polymicrogyria |
|
Growth delay, Lateral ventricle dilatation, Short stature |
ORPHA:208447 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Short stature, Rhizomelic leg shortening, Meningocele,... |
ORPHA:397715 |
Muenke Syndrome |
|
Hydrocephalus, Brachycephaly, Plagiocephaly, Macrocephaly, Coronal craniosynostosis |
ORPHA:53271 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Growth delay, Lateral ventricle dilatation |
OMIM:615716 |
Autosomal Recessive Primary Microcephaly |
|
Growth delay, Short stature, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:2512 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... |
OMIM:611490 |
Temtamy Syndrome |
|
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:218340 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
Warburg Micro Syndrome 3 |
|
Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Microphth... |
OMIM:614222 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Growth delay, Short stature, Ventriculomegaly |
OMIM:616116 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... |
OMIM:615630 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Partial agenesis of the corpus callosum, Lateral ventricle dilatation |
OMIM:619517 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cardiomyopathy, Hypoplasia of the brainstem, Lateral ventricle dilatati... |
ORPHA:572798 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617127 |
Pierpont Syndrome |
|
Microcornea, Microphthalmia |
ORPHA:487825 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ventriculomegaly |
OMIM:618228 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Cerebellar vermis hypoplasia, Short stature, Sagittal craniosynostosis, Hy... |
ORPHA:459061 |
Trisomy 5P |
|
Short stature, Ventriculomegaly |
ORPHA:1742 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Growth delay, Joint contracture of the h... |
OMIM:179613 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Cataract, Hypospadias, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Micro... |
OMIM:615877 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... |
OMIM:613156 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Ami... |
ORPHA:414 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Abnormal chor... |
ORPHA:564 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Skeletal muscle atrophy, Ventriculomegaly |
OMIM:618251 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Frontonasal Dysplasia 1 |
|
Microphthalmia, Cataract, Coloboma |
OMIM:136760 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Stage 5 ... |
ORPHA:79259 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Distal amyotrophy, Facial palsy |
OMIM:256850 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Opti... |
ORPHA:93400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Hydrocephalus, Brachycephaly, Macrocephaly, Agenesis of corpus callosum |
OMIM:109120 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Intrauterine growth retardation, Severe short stature, Ventriculomegaly |
ORPHA:2643 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Microphthalmia |
OMIM:617306 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Kapur-Toriello Syndrome |
|
Microphthalmia, Hypoplasia of penis, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Warburg Micro Syndrome 2 |
|
Cataract, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Micropenis |
OMIM:614225 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str... |
OMIM:252500 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Cataract, Optic disc hypoplasia, Renal hypoplasia/aplasia, Optic disc coloboma... |
ORPHA:959 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventriculomegaly |
ORPHA:1188 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Atri... |
OMIM:603387 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy |
ORPHA:79292 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Craniosynostosis, Mic... |
OMIM:613451 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Hepatomegaly, Retinal atrophy, Retinal dystrophy, Cataract, Renal insufficienc... |
ORPHA:90324 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Postnatal growth retardation, Short stature, Ventricular septal defect, Ventriculomegaly |
OMIM:620210 |
1Q44 Microdeletion Syndrome |
|
Short stature, Hydrocephalus, Growth delay, Abnormal cardiac septum morphology, Agenesis of corpu... |
ORPHA:238769 |
Warburg Micro Syndrome 4 |
|
Optic atrophy, Developmental cataract, Microcornea, Microphthalmia, Micropenis |
OMIM:615663 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Increased CSF lactate, Congenital foot contractures, Lateral ventricle dilatation, Atrophy/Degene... |
ORPHA:565624 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic... |
ORPHA:585 |
20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Short stature, Ventriculomegaly |
ORPHA:261295 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Increased CSF lactate, Increased CSF glycine concentration, Intrauterine growth retardation, Arth... |
OMIM:615330 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lateral ventricle dilatation, Pontocerebellar atrophy, Hypomimic face |
OMIM:617854 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Short stature, Microcephaly, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Cerebral atrophy, G... |
OMIM:614886 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Lateral ventricle dilatation, Patent foramen ovale |
OMIM:620075 |
Brain Small Vessel Disease 2 |
|
Growth delay, Ventriculomegaly |
OMIM:614483 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly |
OMIM:615433 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor |
OMIM:300887 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Ventriculomegaly |
OMIM:618624 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... |
ORPHA:158029 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Short stature, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:615286 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro... |
OMIM:222300 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Intrauterine growth retardation, Ventriculomegaly |
OMIM:619922 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hy... |
OMIM:614376 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Hydr... |
OMIM:309801 |
Kapur-Toriello Syndrome |
|
Cataract, Abnormality of the urinary system, Retinal coloboma, Microphthalmia, Micropenis, Iris c... |
OMIM:244300 |
Pontocerebellar Hypoplasia, Type 13 |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Dandy-Walker malformation |
OMIM:618606 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Moyamoya Disease |
|
Ventriculomegaly |
ORPHA:2573 |
3C Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, Short stature, Pos... |
ORPHA:7 |
Malan Overgrowth Syndrome |
|
Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of the brainstem |
ORPHA:420179 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Cataract, Astigmatism, Retinal coloboma, Microphthalmia, Renal dysplasia |
OMIM:618571 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy, Ventriculomegaly |
OMIM:618241 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Microcornea, Microphthalmia, Iris coloboma |
ORPHA:2712 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Nephropathy, Abnormal pancreas mo... |
ORPHA:116 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation |
OMIM:221770 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Cataract, Optic disc hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe k... |
OMIM:607323 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liv... |
ORPHA:247691 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Ventriculomegaly |
OMIM:618974 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Dilated cardiomyopathy, Ventricular septal defect, Ventriculomegaly |
ORPHA:261250 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Seckel Syndrome 2 |
|
Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... |
OMIM:130650 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract |
ORPHA:93267 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... |
OMIM:268315 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Abnormal occipital bone morphology, Polyhydramnios, Myel... |
ORPHA:63259 |
Bilateral Frontoparietal Polymicrogyria |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Ventriculomegaly |
ORPHA:101070 |
Oxoglutarate Dehydrogenase Deficiency |
|
Generalized amyotrophy, Ventriculomegaly |
OMIM:203740 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr... |
OMIM:236670 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Microphthalmia, Iris coloboma |
ORPHA:77298 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Hypoplasia of the br... |
ORPHA:500159 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney |
ORPHA:276280 |
Hartsfield Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:2117 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia |
OMIM:601349 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Short stature, Ventriculomegaly |
OMIM:230650 |
X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation |
ORPHA:85290 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma |
ORPHA:1791 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Short stature, Ventriculomegaly |
OMIM:615502 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
Joubert Syndrome 37 |
|
Microphthalmia, Micropenis, Hydronephrosis, Hepatomegaly |
OMIM:619185 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduria |
ORPHA:309288 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Emanuel Syndrome |
|
Ventriculomegaly, Torticollis, Truncus arteriosus, Ventricular septal defect, Congenital diaphrag... |
OMIM:609029 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia |
OMIM:614979 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Colpocephaly, Mitral stenosis, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617260 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Hypoplasia of the brainstem, Short stature, Ventriculomegaly |
OMIM:618273 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... |
ORPHA:457279 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Periportal fibrosis, Enlarged kidne... |
ORPHA:79328 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Pontocerebellar Hypoplasia Type 2 |
|
Dysplastic corpus callosum, Hypoplasia of the ventral pons, Viral infection-induced rhabdomyolysi... |
ORPHA:2524 |
Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Rhizomelia, Short stature, Postnatal growth retardation, Lateral ventricle dilatation, Camptodact... |
OMIM:611209 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Short stature, Ventriculomegaly |
OMIM:611555 |
Developmental And Epileptic Encephalopathy 31B |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
6Q25 Microdeletion Syndrome |
|
Short stature, Agenesis of corpus callosum, Camptodactyly of finger, Ventriculomegaly |
ORPHA:251056 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Ascites, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Bilateral microphthalmos, Coloboma, Microphthalmia, Conjunctival hyper... |
ORPHA:2399 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Hydrocephalus, Growth delay, Atrial septal defect, Intrauterine growth... |
OMIM:614576 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Coloboma |
OMIM:614583 |
Methylcobalamin Deficiency Type Cble |
|
Postnatal growth retardation, Hydrocephalus, Hypoplasia of the brainstem, Lower limb hypertonia, ... |
ORPHA:2169 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium |
OMIM:619339 |
Cog5-Cdg |
|
Short stature, Camptodactyly of finger, Lateral ventricle dilatation, Atrophy/Degeneration affect... |
ORPHA:263487 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Alobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly, H... |
OMIM:301043 |
Holoprosencephaly 7 |
|
Frontal bossing, Flat occiput, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Partial age... |
OMIM:610828 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
Trichothiodystrophy 3, Photosensitive |
|
Cataract, Abdominal adhesions, Developmental cataract, Neutropenia, Microphthalmia, Lymphopenia |
OMIM:616395 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Cardiomyopathy, Generalized amyotrophy, Intrauterine growth retardation,... |
OMIM:617710 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Flexion contracture, Ventriculomegaly |
OMIM:619851 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Hogue-Janssen Syndrome 2 |
|
Facial hypotonia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616362 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Micropenis, Iris coloboma, Chorioretinal coloboma |
OMIM:243310 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... |
ORPHA:91138 |
Curry-Jones Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Distal Deletion 10Q |
|
Scapular winging, Short stature, Postnatal growth retardation, Facial diplegia, Lateral ventricle... |
ORPHA:96148 |
Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
Joubert Syndrome 14 |
|
Morning glory anomaly, Optic atrophy, Renal cyst, Coloboma, Microphthalmia |
OMIM:614424 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal... |
ORPHA:2969 |
Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
Orofaciodigital Syndrome Xvii |
|
Tetralogy of Fallot, Short stature, Ventriculomegaly |
OMIM:617926 |
Glutaric Acidemia I |
|
Hydrocephalus, Lateral ventricle dilatation |
OMIM:231670 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... |
ORPHA:284169 |
Noonan Syndrome 14 |
|
Scapular winging, Short stature, Mitral valve prolapse, Lateral ventricle dilatation, Pulmonic st... |
OMIM:619745 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia |
ORPHA:1806 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Developmental cataract, Anemia, Vitreous hemorrhage, Mic... |
OMIM:620185 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Hydrocephalus, Growth delay, Intrauterine growth retardation, Ventricu... |
OMIM:300514 |
Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, Intr... |
OMIM:618804 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Decreased muscle mass, Facial hypotonia, Ventriculomegaly |
ORPHA:500533 |
Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Short stature, Ventriculomegaly, Disproportionate short-tr... |
ORPHA:1855 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Houge-Janssens Syndrome 3 |
|
Muscular ventricular septal defect, Hypoplasia of the brainstem, Atrial septal defect, Umbilical ... |
OMIM:618354 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Postnatal growth retardation, Partial agenesis of the corpus callosum, Congenital fi... |
ORPHA:300570 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma... |
ORPHA:244 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Pericardial effusion, Lateral ventricle dilatation, Lower limb hypertonia, Left ven... |
OMIM:619487 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Thickened g... |
OMIM:308940 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Conjunctival hyperemia, Coloboma |
OMIM:167730 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Lower limb hypertonia, Lateral ventricle dilatation, Dil... |
OMIM:617296 |
Braddock-Carey Syndrome 2 |
|
Microphthalmia |
OMIM:619981 |
4Q21 Microdeletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:238750 |
Khan-Khan-Katsanis Syndrome |
|
Short stature, Colpocephaly, Intrauterine growth retardation, Joint contracture, Patent foramen o... |
OMIM:618460 |
Knobloch Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... |
ORPHA:1571 |
Emanuel Syndrome |
|
Ventriculomegaly, Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Con... |
ORPHA:96170 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... |
OMIM:194380 |
Williams-Beuren Region Duplication Syndrome |
|
Hydrocephalus, Short stature, Ventriculomegaly |
OMIM:609757 |
Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hy... |
ORPHA:171680 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Cockayne Syndrome |
|
Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepatom... |
ORPHA:191 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Lateral ventricle dilatation, Dilated cardiomyopathy, Agenesis of co... |
OMIM:300952 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Frontal bossing, Turricephaly, Polyhydramnios, Megalencephaly, Microcephaly, Hydrocephalus, Plagi... |
OMIM:613603 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Short stature, Ventricular septal defect, Flexion contracture, Atrial septal defect, Intrauterine... |
OMIM:617452 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Intrauterine growth retardation, Hypoplasia of the brainstem, Agenesis of corpus callosum, Ventri... |
ORPHA:255138 |
Crouzon Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost... |
OMIM:123500 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Ventriculomegaly |
OMIM:606854 |
Steinfeld Syndrome |
|
Absent gallbladder, Retinal coloboma, Microphthalmia, Unilateral renal dysplasia, Iris coloboma |
OMIM:184705 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Microphthalmia, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Abnormal renal morpho... |
OMIM:227650 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Pontocerebellar Hypoplasia, Type 16 |
|
Hypoplasia of the pons, Skeletal muscle atrophy, Ventriculomegaly, Limb hypertonia |
OMIM:619527 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Dandy-Walker malformation, Ventriculomegaly |
OMIM:617622 |
Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Umbilical hern... |
OMIM:618205 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Hypoplasia of the brainstem, Kinked brains... |
OMIM:617822 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Skeletal muscle hypertrophy, Macroglossia, Hypoplasia of the brains... |
OMIM:613150 |
Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Cataract, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Cat Eye Syndrome |
|
Renal agenesis, Biliary atresia, Horseshoe kidney, Hydronephrosis, Chorioretinal coloboma, Vesico... |
OMIM:115470 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Cataract |
OMIM:214150 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Amish Lethal Microcephaly |
|
Ventriculomegaly, Agenesis of corpus callosum, Spina bifida, Limb hypertonia |
ORPHA:99742 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia |
OMIM:618727 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Ventricular septal defect, Hydrocephalus, Lateral ventricle dilatation, Dilated th... |
OMIM:619575 |
Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Congenital ... |
ORPHA:1454 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Atrial ... |
OMIM:616546 |
Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Meningocele, Dandy-Walker malformation |
ORPHA:2481 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Facial hypotonia, Ventriculomegaly |
OMIM:611087 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Ho... |
OMIM:600901 |
Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:603194 |
Den Hoed-De Boer-Voisin Syndrome |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Ventricular septal defect, Ventric... |
OMIM:619229 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Pigmentary retinopathy, Microphthalmia, Micropenis |
OMIM:614230 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myofiber disarray, Increased CSF lactate, Myopathy, Increased variability in muscle fiber diamete... |
OMIM:604377 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Short stature, Ventricular septal defect, Limb joint contracture, Atrial septal defect, Intrauter... |
ORPHA:505237 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Hypospadias, C... |
OMIM:206900 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Myelopathy, Increased CSF lactate, Cervical myelopathy, Ventriculomegaly |
OMIM:617186 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steat... |
OMIM:300855 |
Fanconi Anemia, Complementation Group F |
|
Thrombocytopenia, Renal hypoplasia, Leukopenia, Bone marrow hypocellularity, Microphallus, Vesico... |
OMIM:603467 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Intrauterine growth retardation, Partial agenesis of the corpus callosum, Ventriculomegaly |
OMIM:619074 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Retinal degeneration |
OMIM:272200 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect, Intrauterine growth retardation, Ventriculomegaly |
OMIM:620183 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Lateral ventricle dilatation, Distal arthrogryposis, Intrauterine growth retard... |
OMIM:617557 |
Joubert Syndrome 2 |
|
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ... |
OMIM:608091 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum |
OMIM:619244 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Asplenia, Horseshoe kidney, Hydronephrosis, Abnormal liver ... |
ORPHA:99776 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Craniosynos... |
OMIM:605627 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Retinal vascular proliferati... |
OMIM:308300 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Hypoplasi... |
OMIM:251300 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... |
OMIM:210710 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Cataract, Asplenia, Keratoconjunctivitis, Nephrocalcinosis, Perifoveal ... |
OMIM:240300 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Cardiomegaly, Flexion contracture, Intrauterine growth retardation, Hy... |
OMIM:616897 |
17Q12 Microduplication Syndrome |
|
Microphthalmia |
ORPHA:261272 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Stevenson-Carey Syndrome |
|
Microphthalmia, Recurrent urinary tract infections, Coloboma |
OMIM:611961 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Astigmatism, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Cyclopia, Anophthalmia, Coloboma |
OMIM:147250 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly |
ORPHA:1860 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydrocephalu... |
ORPHA:261344 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Optic atrophy |
OMIM:234050 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Ventriculomegaly |
OMIM:615879 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma |
ORPHA:251038 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Colpocephaly, Camptodactyly, Atrial septal defect, Intrauterine growth... |
OMIM:614866 |
Thanatophoric Dysplasia, Type Ii |
|
Neonatal death, Lethal short-limbed short stature, Ventriculomegaly |
OMIM:187601 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Short stature |
OMIM:619847 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Microphthalmia, Retinopathy, Hypospadias |
ORPHA:2505 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Increased retinal vascularity, Mic... |
OMIM:606519 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Short stature, Camptodactyly of finger, Holoprosencephaly, Atrial sept... |
ORPHA:261236 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal a... |
OMIM:617913 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy |
OMIM:616538 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati... |
OMIM:610199 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Hypospadias, Microcornea, Microphthalmia, Hydronephrosis |
OMIM:616449 |
Seckel Syndrome 9 |
|
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defect, ... |
OMIM:616777 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Developmental cataract, Retinal calcification, Microphthalmia, Anemia |
OMIM:127000 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly, Extra-axial cerebrospinal fluid accumu... |
OMIM:618798 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:488627 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Bile duct proliferation, Renal cyst |
OMIM:611134 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Ho... |
OMIM:227645 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Proboscis Lateralis |
|
Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Cataract, Unilateral renal agenesis, Optic... |
ORPHA:141099 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia |
OMIM:253800 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Agenesis of corpus callosum, Ventricular septal defect, Ventriculomegaly |
ORPHA:452 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Ventricular septal defect, Congenital diaphragmatic hernia, Holoprosencephaly, Ven... |
OMIM:612530 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Short stature, Postnatal growth retardation, Hydrocephalus, Embryonal rhabdomyo... |
OMIM:257300 |
Shashi-Pena Syndrome |
|
Mild fetal ventriculomegaly, Atrial septal defect, Intrauterine growth retardation, Ventriculomeg... |
OMIM:617190 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Dysplastic corpus callosum, Extra-axial cerebrospinal fluid accumulation, Patent f... |
OMIM:619179 |
8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Microphthalmia, Iris hypopigmentation |
ORPHA:284160 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Short stature, Ventriculomegaly |
ORPHA:2031 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Abnormal anterior chamb... |
OMIM:118450 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
Pelvis-Shoulder Dysplasia |
|
Bilateral microphthalmos, Microcornea, Hydronephrosis, Retinal coloboma, Iris coloboma |
ORPHA:2839 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... |
OMIM:214500 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Growth delay, Intrauterine growth retardation, Camptodactyly of finger, Ventriculomegaly |
ORPHA:2083 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Microcornea, Microphthalmia, Cataract, Hydronephrosis |
ORPHA:35173 |
Adams-Oliver Syndrome |
|
Cataract, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphthalmia... |
ORPHA:974 |
Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Biliary tract abnormality |
ORPHA:3191 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Increased CSF lactate, Congenital contracture, Intrauterine growth retardati... |
OMIM:618397 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Renal hypoplasi... |
OMIM:601186 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Short stature, Ventriculomegaly |
ORPHA:1933 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Corneal opacity, Ectopia lentis, Renal hypoplasia/aplasia, Horsesho... |
ORPHA:2092 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Choroid plexus cyst, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:1827 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret... |
OMIM:227646 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Abnormality of the upper urinary tract, Microcorne... |
ORPHA:3380 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio... |
ORPHA:1692 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Flat occiput, Abnormal cortical gyration, Exencephaly, Brachycephaly, Macrogyria, ... |
ORPHA:2211 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum, Muscular ventricular septal defect, Abnormal heart morphology, Perime... |
ORPHA:363444 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia, Anencephaly |
ORPHA:2189 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Lateral ventricle dilatation, Atrial septal defect, Dilated third vent... |
ORPHA:464738 |
Jacobsen Syndrome |
|
Hypospadias, Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal coloboma, Microphthalm... |
OMIM:147791 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Cardiomegaly, Optic atrophy, Renal cyst, Microphthalmia, Megalocor... |
ORPHA:137675 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Desmosterolosis |
|
Severe short stature, Hydrocephalus, Anomalous pulmonary venous return, Growth delay, Intrauterin... |
ORPHA:35107 |
Weaver Syndrome |
|
Diastasis recti, Lateral ventricle dilatation, Camptodactyly, Umbilical hernia, Joint contracture... |
OMIM:277590 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L... |
OMIM:260920 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Growth delay, Facial diplegia, Hypertrophic cardiomyopathy, Ventri... |
OMIM:619121 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Coloboma... |
ORPHA:508498 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi... |
ORPHA:2538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... |
OMIM:253280 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Thrombocytopenia, Rena... |
OMIM:620005 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Cranial asymmetry, Optic nerve hypoplasia, Macrocephaly |
ORPHA:137634 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:1647 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Penoscrotal hypospadias, Hepatopulmonary fusion, Patent urachus, Micropenis, En... |
OMIM:618280 |
Bainbridge-Ropers Syndrome |
|
Growth delay, Intrauterine growth retardation, Lateral ventricle dilatation, Contracture of the p... |
OMIM:615485 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Conotruncal defect, Growth delay, Macroglossia, Abnormal cardiac septum morphology, Aortic valve ... |
ORPHA:96147 |
Fanconi Anemia, Complementation Group W |
|
Growth delay, Intrauterine growth retardation, Ventriculomegaly |
OMIM:617784 |
Dent Disease |
|
Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,... |
ORPHA:1652 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Eosinophilia, Corneal opacity, R... |
ORPHA:464 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... |
OMIM:278730 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of the brainstem, Vent... |
OMIM:614969 |
Marden-Walker Syndrome |
|
Microphthalmia, Micropenis, Hypospadias, Renal hypoplasia |
OMIM:248700 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Pancreatic isle... |
OMIM:312870 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Optic atrophy, Developmental catara... |
OMIM:133540 |
Peho Syndrome |
|
Hydrocephalus, Flexion contracture, Atrophy/Degeneration affecting the brainstem, Arthrogryposis ... |
ORPHA:2836 |
Kleefstra Syndrome Due To A Point Mutation |
|
Umbilical hernia, Short stature, Ventriculomegaly, Abnormal heart morphology |
ORPHA:261652 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Lateral ventricle dilatation, Disproportionate short-limb short stature, Mol... |
OMIM:619479 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Ventriculomegaly, Spina bifida |
OMIM:616038 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Lateral ventricle dilatation, Flexion contracture |
ORPHA:2148 |
Prader-Willi Syndrome Due To Translocation |
|
Short stature, Abnormal heart morphology, Lateral ventricle dilatation, Intrauterine growth retar... |
ORPHA:177907 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosis, Hypoplastic left h... |
OMIM:618164 |
Pseudo-Torch Syndrome 1 |
|
Increased CSF protein concentration, Umbilical hernia, Patent foramen ovale, Ventriculomegaly |
OMIM:251290 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Hydrocephalus, Lateral ventricle dilatation |
OMIM:612301 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Abnormal substantia nigra morphology, Generalized limb muscle atrophy, Distal amyotrophy, Lateral... |
ORPHA:2822 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Tetralogy of Fallot, Short stature, Ventriculomegaly, Lobar holoprosencephaly |
OMIM:614701 |
Desmosterolosis |
|
Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Total anomalous pulmonary ven... |
OMIM:602398 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Renal interstitial edema, Sterile pyuria, Tubulo... |
ORPHA:91500 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
3Q29 Microdeletion Syndrome |
|
Microphthalmia, Cataract, Hypospadias, Horseshoe kidney |
ORPHA:65286 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Neutropenia, Microph... |
ORPHA:193 |
Toriello-Carey Syndrome |
|
Ventriculomegaly, Short stature, Postnatal growth retardation, Partial agenesis of the corpus cal... |
ORPHA:3338 |
1Q21.1 Microdeletion Syndrome |
|
Cataract, Hydronephrosis, Vesicoureteral reflux, Microphthalmia, Iris coloboma |
ORPHA:250989 |
Moebius Syndrome |
|
Microphthalmia, Micropenis |
OMIM:157900 |
Aicardi Syndrome |
|
Spina bifida, Postnatal growth retardation, Partial agenesis of the corpus callosum, Choroid plex... |
OMIM:304050 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:60040 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Joubert Syndrome 21 |
|
Anophthalmia, Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic kidneys, Ret... |
OMIM:615636 |
Macrocephaly, Benign Familial |
|
Ventriculomegaly |
OMIM:153470 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cataract, Microphthalmia, Iris coloboma |
ORPHA:2250 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Umbilical hernia, Proportionate short stature, Ventriculomegaly |
ORPHA:404443 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Renal hypoplasia, Micropenis, Microphthalmia, Cyclopia |
OMIM:264480 |
Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Ectopic kidney |
ORPHA:268249 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Mic... |
ORPHA:42775 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Hypoplasia of the pons, Extra-axial cerebrospinal fluid accumulation, Agenesis of corpus callosum... |
OMIM:617669 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Short stature, Partial agenesis of the corpus callosum, Hydrocephalus,... |
OMIM:270400 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m... |
ORPHA:261197 |
Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the spleen, Optic atrophy, Abnorma... |
ORPHA:2162 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoplasia of the pons, Growth delay, Cardiomyopathy, Muscular dystrophy, Ventriculomegaly |
ORPHA:88618 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:544488 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Peters anomaly |
OMIM:614526 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... |
OMIM:259770 |
Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Anemia |
OMIM:617883 |
Monosomy 18P |
|
Microphthalmia |
ORPHA:1598 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Martsolf Syndrome 1 |
|
Microphthalmia, Micropenis, Cataract, Developmental cataract |
OMIM:212720 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis |
OMIM:207750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Intrauterine growth retardation, Ventriculomegaly |
OMIM:619355 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Short stature, Double inlet left ventricle, Lateral ventricle dilatatio... |
OMIM:619869 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Increased CSF lactate, Agenesis ... |
ORPHA:500144 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ... |
OMIM:175780 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Agenesis of corpus c... |
ORPHA:228308 |
Tetraamelia Syndrome 1 |
|
Cataract, Renal agenesis, Asplenia, Urethral atresia, Microphthalmia |
OMIM:273395 |
Cerebrofacioarticular Syndrome |
|
Short stature, Dysplastic corpus callosum, Abnormal heart morphology, Pulmonic stenosis, Camptoda... |
ORPHA:314679 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Hydrocephalus, Flexion contracture, Dilated third ventricle, Ventriculomegaly |
ORPHA:500055 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Craniosynostosis |
OMIM:601374 |
Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
Frontorhiny |
|
Microphthalmia, Cataract, Iris coloboma |
ORPHA:391474 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, T... |
OMIM:612394 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hepatomegaly, Retinal pi... |
OMIM:219800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... |
OMIM:615287 |
Tenorio Syndrome |
|
Macroglossia, Hydrocephalus, Ventriculomegaly |
OMIM:616260 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Short stature, Hypoplasia of the pons, Mitral valve prolapse, Hypoplas... |
OMIM:616202 |
Gillespie Syndrome |
|
Truncus arteriosus, Ventriculomegaly |
OMIM:206700 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Optic atrophy, Renal cyst, Coloboma, Peters anomaly, Vesicoureteral reflux, Micropht... |
OMIM:616975 |
Cog8-Cdg |
|
Skeletal muscle atrophy, Ventriculomegaly, Atrophy/Degeneration affecting the brainstem |
ORPHA:95428 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Neonatal death, Intrauterine growth retardation, Arthrogryposis multiplex congenita... |
OMIM:608013 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... |
ORPHA:637 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Vesicoureteral reflux, Microphthalmia... |
ORPHA:2059 |
Cadds |
|
Intrauterine growth retardation, Ventriculomegaly |
ORPHA:369942 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Growth... |
OMIM:254940 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... |
OMIM:269200 |
Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Developmental And Epileptic Encephalopathy 5 |
|
Reduced cerebral white matter volume, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus ca... |
OMIM:613477 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Cataract, Hydronephrosis |
OMIM:302960 |
Neu-Laxova Syndrome 1 |
|
Ventriculomegaly, Ventricular septal defect, Spina bifida, Choroid plexus cyst, Agenesis of corpu... |
OMIM:256520 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... |
ORPHA:699 |
Distal Deletion 3P |
|
Short stature, Umbilical hernia, Atrioventricular canal defect, Ventriculomegaly, Intrauterine gr... |
ORPHA:1620 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Hypoglycosylation of alpha-dystroglycan, Abnormal pons morphology, Abnormal brainstem morphology,... |
ORPHA:370997 |
Mosaic Variegated Aneuploidy Syndrome |
|
Ventriculomegaly, Short stature, Rhabdomyosarcoma, Growth delay, Holoprosencephaly, Muscular dyst... |
ORPHA:1052 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Diaphragmatic eventration, Hypoplasia of the pons, Hypoplasia of the br... |
OMIM:615574 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Spina bifida, Flexion contracture, Muscular dystrophy, Intrauterine grow... |
ORPHA:2671 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, ... |
ORPHA:2556 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Increased CSF lactate, Decreased CSF copper concentration, Ventriculomegaly, Limb h... |
OMIM:620306 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Intrauterine growth retardation, Ventriculomegaly |
ORPHA:96181 |
Dubowitz Syndrome |
|
Aplastic anemia, Hypospadias, Hypoplasia of the iris, Acute lymphoblastic leukemia, Microphthalmi... |
OMIM:223370 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Sifrim-Hitz-Weiss Syndrome |
|
Short stature, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Ventriculome... |
OMIM:617159 |
Osteopetrosis, Autosomal Recessive 5 |
|
Short stature, Facial palsy, Hydrocephalus, Growth delay, Stillbirth, Ventriculomegaly, Limb hype... |
OMIM:259720 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall mu... |
ORPHA:2462 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Chorioretinal coloboma |
OMIM:619135 |
Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoac... |
ORPHA:534 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Dilated cardiomyopathy, Disproportionate short-limb short stature, Intrauterine gr... |
OMIM:616541 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:369891 |
Congenital Enterovirus Infection |
|
Pericardial effusion, Myocarditis, CSF lymphocytic pleiocytosis, Cardiomyopathy, Ventriculomegaly |
ORPHA:292 |
Roifman-Chitayat Syndrome |
|
Umbilical hernia, Ventriculomegaly |
OMIM:613328 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Short st... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Bicuspid aortic valve, Ventricular septal defect, Short st... |
ORPHA:353277 |
Rhombencephalosynapsis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
22Q11.2 Deletion Syndrome |
|
Cataract, Hypospadias, Abnormality of the tonsils, Retinal arteriolar tortuosity, Splenomegaly, O... |
ORPHA:567 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... |
OMIM:249000 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Cy... |
ORPHA:3186 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Hypospadias, Phthisis ... |
OMIM:300166 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Abnorma... |
ORPHA:444072 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Short stature, Coronary artery fistula, Neonatal death, Atrial septal ... |
OMIM:620024 |
Isolated Sedoheptulokinase Deficiency |
|
Short stature, Diastasis recti, Flexion contracture, Severe postnatal growth retardation, Arthrog... |
ORPHA:440713 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly, Patent foramen ovale, Lower limb hypertonia |
ORPHA:477993 |
Sanjad-Sakati Syndrome |
|
Short stature, Postnatal growth retardation, Myopathy, Severe intrauterine growth retardation, Ve... |
ORPHA:2323 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Colpocephaly, Short stature |
OMIM:620083 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:618820 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Microphthalmia, Micrope... |
OMIM:614083 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:601707 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis |
OMIM:238600 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
Trichothiodystrophy 1, Photosensitive |
|
Microcornea, Microphthalmia, Keratoconjunctivitis sicca, Cataract |
OMIM:601675 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... |
ORPHA:50 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Intrauterine grow... |
OMIM:610505 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... |
OMIM:619539 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Growth delay, Ventriculomegaly |
OMIM:614749 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Iris coloboma, Hypospadias, Unilateral microphthalmos |
OMIM:618874 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Abnorm... |
OMIM:300868 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypospadias, Coloboma, Microphthalmia, Micropenis |
OMIM:603457 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Hallermann-Streiff Syndrome |
|
Cataract, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:234100 |
Bohring-Opitz Syndrome |
|
Ventriculomegaly, Short stature, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contract... |
ORPHA:97297 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Gro... |
ORPHA:1358 |
2Q31.1 Microdeletion Syndrome |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Coloboma |
ORPHA:251014 |
Monosomy 9Q22.3 |
|
Rhabdomyosarcoma, Hydrocephalus, Cardiac fibroma, Umbilical hernia, Ventriculomegaly |
ORPHA:77301 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Cataract, Hydrour... |
ORPHA:84 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect |
OMIM:263520 |
Hoyeraal-Hreidarsson Syndrome |
|
Intrauterine growth retardation, Short stature, Ventriculomegaly |
ORPHA:3322 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Renal cyst, Polyspl... |
OMIM:229850 |
Trichothiodystrophy |
|
Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Developmental cata... |
ORPHA:33364 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Microphthalmia, Penoscrotal transposition, Hypospadias |
OMIM:619148 |
Heart And Brain Malformation Syndrome |
|
Microphthalmia |
OMIM:616920 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic... |
OMIM:100300 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia, Micropenis |
OMIM:241410 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hydrocephalus, Lower limb muscle weakness, Ventriculomegaly |
ORPHA:395 |
Meckel Syndrome 14 |
|
Microphthalmia, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Multiple joint contractures, Camptodactyly of finger, Ankle flexion contrac... |
ORPHA:468631 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Ocular albinism |
ORPHA:1352 |
Familial Multiple Lipomatosis |
|
Abnormal tricuspid valve morphology, Ventriculomegaly |
ORPHA:199276 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Bicuspid aortic valve, Macroglossia, Umbilical hernia, Aortic valve stenosis, Ventriculomegaly |
OMIM:614501 |
3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis |
OMIM:615947 |
Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Iris atrophy, Optic atrophy |
OMIM:201180 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormal localization of kidney, Micr... |
ORPHA:2166 |
Alobar Holoprosencephaly |
|
Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Short stature, Proboscis, Microcephaly, Hydrocephalus, Growth delay, Neural tube defect, Macrocep... |
ORPHA:220386 |
Cerebrooculofacioskeletal Syndrome 4 |
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Bilateral microphthalmos, Abnormal retinal morphology |
OMIM:610758 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Cataract, Abnormal retinal vascular morphology, Retrobulbar opti... |
ORPHA:90340 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Anemia |
ORPHA:93325 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Treacher-Collins Syndrome |
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Hypoplasia of penis, Cataract, Hypoplasia of the thymus, Microphthalmia, Iris coloboma |
ORPHA:861 |
Aymé-Gripp Syndrome |
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Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro... |
ORPHA:1272 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Lateral ventricle dilatation, Short stature, Short umbilical cord |
OMIM:618367 |
Congenital Disorder Of Glycosylation, Type Iim |
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Atrial septal defect, Intrauterine growth retardation, Lateral ventricle dilatation |
OMIM:300896 |
Jacobsen Syndrome |
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Ventricular septal defect, Short stature, Spina bifida, Growth delay, Hypoplastic left heart, Int... |
ORPHA:2308 |
Degcags Syndrome |
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Hepatomegaly, Pancytopenia, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysp... |
OMIM:619488 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Teebi-Shaltout Syndrome |
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Microphthalmia, Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Opitz Gbbb Syndrome |
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Ventriculomegaly, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Abno... |
ORPHA:2745 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
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Microphthalmia |
OMIM:620098 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
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Microcornea, Microphthalmia |
OMIM:156610 |
Townes-Brocks Syndrome |
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Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the kidney, Renal insufficiency, Ectop... |
ORPHA:857 |
Scalp-Ear-Nipple Syndrome |
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Cardiac myxoma, Lateral ventricle dilatation, Short stature |
OMIM:181270 |
Premature Aging Syndrome, Penttinen Type |
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Corneal stromal edema, Microphthalmia, Corneal opacity, Hypermyelinated retinal nerve fibers |
OMIM:601812 |
Cousin Syndrome |
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Microcornea, Microphthalmia, Hydronephrosis |
OMIM:260660 |
Rothmund-Thomson Syndrome, Type 2 |
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Cataract, Microcornea, Microphthalmia, Annular pancreas, Zonular cataract |
OMIM:268400 |
Fumarase Deficiency |
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Choroid plexus cyst, Hypoplasia of the brainstem, Perimembranous ventricular septal defect, Agene... |
OMIM:606812 |
Kabuki Syndrome 1 |
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Short stature, Ventricular septal defect, Postnatal growth retardation, Hydrocephalus, Growth del... |
OMIM:147920 |
Charge Syndrome |
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Anophthalmia, Cataract, Renal agenesis, Unilateral microphthalmos, Horseshoe kidney, Micropenis, ... |
OMIM:214800 |
Monosomy 13Q14 |
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Microphthalmia, Iris coloboma, Cataract, Retinoblastoma |
ORPHA:1587 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Growth delay, Short stature, Cranial asymmetry, Hemimegalencephaly |
OMIM:163200 |
Lenz-Majewski Hyperostotic Dwarfism |
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Short stature, Dysplastic corpus callosum, Elbow flexion contracture, Knee flexion contracture, I... |
OMIM:151050 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Corneal ... |
OMIM:309000 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Diastasis recti, Partia... |
OMIM:265380 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Progressive ventriculomegaly, Proportionate short stature, Dysplastic corpus callosum, Abnormal h... |
ORPHA:500150 |
Chromosome 13Q14 Deletion Syndrome |
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Retinoblastoma, Chorioretinal coloboma, Microphthalmia, Micropenis, Iris coloboma |
OMIM:613884 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c... |
OMIM:157170 |
Lymphedema-Distichiasis Syndrome |
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Microphthalmia, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions |
OMIM:153400 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Facial hypotonia, Olivopontocerebellar hypoplasia, Hydrocephalus, Agenesis of corpus callosum, Ve... |
ORPHA:457284 |
Gaucher Disease |
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Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Sho... |
ORPHA:355 |
Frontofacionasal Dysplasia |
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Microcornea, Microphthalmia, Cataract, Iris coloboma |
OMIM:229400 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Microphthalmia, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Roberts Syndrome |
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Cataract, Long penis, Polycystic kidney dysplasia, Microphthalmia, Thrombocytopenia |
ORPHA:3103 |
Hydranencephaly |
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Postnatal growth retardation, Intrauterine growth retardation, Dilatation of the ventricular cavi... |
ORPHA:2177 |
Bartsocas-Papas Syndrome 1 |
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Ectopic kidney, Micropenis, Popliteal pterygium, Opacification of the corneal stroma, Microphthal... |
OMIM:263650 |
Oculodentodigital Dysplasia |
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Microcornea, Microphthalmia, Neurogenic bladder, Cataract |
OMIM:164200 |
Crane-Heise Syndrome |
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Intrauterine growth retardation, Ventriculomegaly |
ORPHA:1512 |
Renpenning Syndrome 1 |
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Cataract, Hypospadias, Phimosis, Renal hypoplasia, Coloboma, Microphthalmia |
OMIM:309500 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Microphthalmia, Iris coloboma |
ORPHA:1236 |
Holoprosencephaly 3 |
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Holoprosencephaly, Ventriculomegaly |
OMIM:142945 |
Basal Cell Nevus Syndrome 1 |
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Microphthalmia, Cataract, Iris coloboma |
OMIM:109400 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
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Hypertrophic cardiomyopathy, Ventriculomegaly |
OMIM:618222 |
Branchiooculofacial Syndrome |
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Anophthalmia, Cataract, Hypospadias, Renal agenesis, Duplication of internal organs, Renal cyst, ... |
OMIM:113620 |
Momo Syndrome |
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Bilateral microphthalmos, Chorioretinal coloboma |
ORPHA:2563 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Microcornea, Microphthalmia |
OMIM:110100 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Aplasia of the thymus, Optic disc coloboma, Prolonged neonatal jaundice, Microphthalmia, Iris col... |
OMIM:620186 |
Focal Dermal Hypoplasia |
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Ureteral duplication, Anophthalmia, Ectopia lentis, Optic atrophy, Horseshoe kidney, Hydronephros... |
OMIM:305600 |
Keppen-Lubinsky Syndrome |
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Lateral ventricle dilatation, Flexion contracture |
OMIM:614098 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Optic atrophy, True anophthalmia, Horseshoe kidney |
ORPHA:1106 |
Linear Nevus Sebaceus Syndrome |
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Microphthalmia, Iris coloboma |
ORPHA:2612 |
Schinzel-Giedion Syndrome |
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Choroid plexus cyst, Abnormal heart morphology, Neural tube defect, Macroglossia, Camptodactyly, ... |
ORPHA:798 |
Ohdo Syndrome, X-Linked |
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Microphthalmia, Micropenis |
OMIM:300895 |
Costello Syndrome |
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Ventricular septal defect, Short stature, Rhabdomyosarcoma, Hydrocephalus, Achilles tendon contra... |
OMIM:218040 |
6Q Terminal Deletion Syndrome |
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Colpocephaly |
ORPHA:75857 |
Genitopatellar Syndrome |
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Hip contracture, Ventricular septal defect, Knee flexion contracture, Colpocephaly, Atrial septal... |
OMIM:606170 |
Ring Chromosome 7 Syndrome |
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Short stature, Situs inversus totalis, Holoprosencephaly, Severe intrauterine growth retardation,... |
ORPHA:1449 |
Hallermann-Streiff Syndrome |
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Microphthalmia, Abdominal situs inversus, Developmental cataract |
ORPHA:2108 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Microphthalmia, Corneal opacity |
ORPHA:364577 |
Congenital Myopathy 13 |
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Skeletal muscle atrophy, Short stature, Fatty replacement of skeletal muscle, Flexion contracture... |
OMIM:255995 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Retinal dystrophy, Sclerocornea, Renal hypoplasia, Microcornea, Coloboma, Microphth... |
OMIM:607932 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Cataract, Corneal opacity, Hypospadias, Long penis, Biliary tract abnormality, ... |
OMIM:268300 |
Holoprosencephaly 9 |
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Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Peters Plus Syndrome |
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Short stature, Rhizomelia, Postnatal growth retardation, Hydrocephalus, Bicuspid pulmonary valve,... |
ORPHA:709 |
Meester-Loeys Syndrome |
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Short stature, Mitral valve prolapse, Camptodactyly, Umbilical hernia, Joint contracture, Ventric... |
OMIM:300989 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Hypospadias, Antecubital pterygium, Horseshoe kidney, Popliteal pterygium, Microphthalmia, Microp... |
OMIM:609945 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Mitral valve calcification, Aortic valve calcification, Hydrocephalus, Growth delay, Bacterial en... |
ORPHA:2072 |
Choreoacanthocytosis |
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Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy, Lateral ventricle dilatation, Distal a... |
ORPHA:2388 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Urinary incontinence, Asplenia, Abnormal pupil morphology, Microcornea, Vesicoureteral reflux, We... |
ORPHA:261552 |
Yunis-Varon Syndrome |
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Cataract, Hypospadias, Sclerocornea, Cardiomegaly, Bilateral microphthalmos, Renovascular hyperte... |
ORPHA:3472 |
Isolated Arrhinia |
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Microphthalmia |
ORPHA:1134 |
Wolf-Hirschhorn Syndrome |
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Decreased muscle mass, Ventricular septal defect, Short stature, Hydrocephalus, Growth delay, Sev... |
OMIM:194190 |
Fraser Syndrome 1 |
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Anophthalmia, Corneal opacity, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, R... |
OMIM:219000 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
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Microcornea, Microphthalmia, Hypospadias, Ureterocele |
OMIM:616734 |
Mowat-Wilson Syndrome |
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Cataract, Hypospadias, Abnormality of the kidney, Microcornea, Ectopia pupillae, Chorioretinal co... |
OMIM:235730 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Microphthalmia, Micropenis, Absent gallbladder |
OMIM:617925 |
Arthrogryposis, Distal, Type 4 |
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Cranial asymmetry |
OMIM:609128 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Webbed penis, Asplenia... |
ORPHA:261537 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Optic disc coloboma, Renal hypo... |
OMIM:309800 |
Mowat-Wilson Syndrome |
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Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Webbed penis, Abnormal... |
ORPHA:2152 |
Mend Syndrome |
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Microphthalmia, Cataract |
ORPHA:401973 |
8Q24.3 Microdeletion Syndrome |
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Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of the kidney, Bilateral microphth... |
ORPHA:508488 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Microphthalmia, Hypospadias, Hydronephrosis |
OMIM:236680 |
3-Methylglutaconic Aciduria, Type Viii |
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Neonatal death, Growth delay, Ventriculomegaly, Increased CSF lactate |
OMIM:617248 |
Monosomy 9P |
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Microphthalmia, Ureteropelvic junction obstruction, Hypospadias |
ORPHA:261112 |
Fraser Syndrome |
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Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U... |
ORPHA:2052 |
Myhre Syndrome |
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Microphthalmia, Cataract |
OMIM:139210 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Microphthalmia, Cataract |
ORPHA:306542 |
Witteveen-Kolk Syndrome |
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Cataract, Hypospadias, Phimosis, Anisocoria, Male urethral meatus stenosis, Microphallus, Microph... |
OMIM:613406 |
Holoprosencephaly 1 |
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Microphthalmia, Cyclopia, Micropenis |
OMIM:236100 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Microphthalmia, Cataract, Sutural cataract, Nuclear pulverulent cataract |
OMIM:612474 |
Wiedemann-Rautenstrauch Syndrome |
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Thickened calvaria, Frontal bossing, Relative macrocephaly, Short stature, Hydrocephalus, Cranial... |
ORPHA:3455 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Microphthalmia, Corneal opacity |
OMIM:608670 |
Fontaine Progeroid Syndrome |
|
Left ventricular hypertrophy, Microphthalmia, Micropenis |
OMIM:612289 |
Pallister-Hall Syndrome |
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Hypospadias, Unilateral renal agenesis, Ectopic kidney, Bilateral renal agenesis, Microphthalmia,... |
ORPHA:672 |
Craniofacial Microsomia 1 |
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Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux... |
OMIM:164210 |
Treacher Collins Syndrome 1 |
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Bilateral microphthalmos |
OMIM:154500 |
Infantile Spasms Syndrome |
|
|
ORPHA:3451 |