Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Microcephaly 12, Primary, Autosomal Recessive |
|
Simplified gyral pattern |
OMIM:616080 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly |
OMIM:615411 |
Lissencephaly 1 |
|
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly |
OMIM:607432 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Microlissencephaly |
|
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... |
ORPHA:1083 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria |
ORPHA:101029 |
Lissencephaly, X-Linked, 1 |
|
Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:300067 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia |
OMIM:618185 |
Joubert Syndrome 13 |
|
Pachygyria |
OMIM:614173 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Pachygyria, Lissencephaly |
OMIM:614499 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Pachygyria, Agyria, Gray matter heterotopia |
ORPHA:1084 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia |
OMIM:615544 |
Lissencephaly 3 |
|
Polymicrogyria, Periventricular laminar heterotopia, Pachygyria, Agyria, Gray matter heterotopia,... |
OMIM:611603 |
Cortical Malformations, Occipital |
|
Pachygyria, Polymicrogyria |
OMIM:614115 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia |
OMIM:618572 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:604213 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Lissencephaly, Periventricular ribbonlike heterotopia |
OMIM:618677 |
Galactosemia Ii |
|
Prolonged neonatal jaundice, Galactosuria, Cataract |
OMIM:230200 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep... |
OMIM:604317 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14B (Bilateral Perisylvian) |
|
Perisylvian polymicrogyria |
OMIM:615752 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Gray matter heterotopia, Dysgyria |
ORPHA:352682 |
Galactosemia Iv |
|
Hepatomegaly, Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration |
OMIM:618709 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration |
ORPHA:1980 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration |
ORPHA:2216 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration |
ORPHA:1314 |
Band Heterotopia |
|
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... |
OMIM:615285 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
Trimethylaminuria |
|
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia |
OMIM:602079 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
Morm Syndrome |
|
Micropenis, Cataract, Retinal atrophy |
ORPHA:75858 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract |
OMIM:618660 |
Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... |
ORPHA:3156 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Periventricular nodular heterotopia |
OMIM:620065 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract, Renal tubular dysfunction |
ORPHA:1380 |
Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Lissencephaly, Simpl... |
OMIM:616212 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Lissencephaly 5 |
|
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:615191 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
Polymicrogyria Due To Tubb2B Mutation |
|
Polymicrogyria, Pachygyria, Gray matter heterotopia, Lissencephaly, Perisylvian polymicrogyria |
ORPHA:300573 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Hepatomegaly, Splenomegaly |
ORPHA:417 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... |
ORPHA:100024 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Optic atrophy, Hematuria, Posterior embryotoxon, Retinal detachment, Corneal opacity, I... |
ORPHA:1473 |
Coats Disease |
|
Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... |
OMIM:616217 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen, Hepatomegaly |
OMIM:204000 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice |
OMIM:620010 |
Cataract 47 |
|
Cataract, Microcornea, Glycosuria |
OMIM:612018 |
Hemimegalencephaly |
|
Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Conjunctivitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocyto... |
OMIM:603552 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration |
OMIM:614292 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome |
OMIM:105200 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Simplified gyral pattern |
OMIM:618273 |
Aniridia 2 |
|
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
Retinitis Pigmentosa 9 |
|
Cataract, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:180104 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:613731 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Corneal opacity |
ORPHA:90654 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
Subependymal Nodular Heterotopia |
|
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria |
ORPHA:101030 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Fish-Eye Disease |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Periventricular heterotopia, Simplified gyral pattern |
OMIM:616171 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
Retinitis Pigmentosa 84 |
|
Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy |
OMIM:618220 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... |
OMIM:614470 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias |
ORPHA:1046 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... |
ORPHA:91495 |
Mevalonic Aciduria |
|
Cataract, Splenomegaly |
ORPHA:29 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Glutathionuria |
|
Gray matter heterotopia |
OMIM:231950 |
Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Congenital Rubella Syndrome |
|
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Anem... |
ORPHA:290 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:100025 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
Galactose Mutarotase Deficiency |
|
Cholestasis, Hepatomegaly, Cataract |
ORPHA:570422 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Microphthalmia/Coloboma 12 |
|
Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral reflux, Remnants of the ... |
OMIM:120200 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly |
ORPHA:89844 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... |
ORPHA:79301 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
Joubert Syndrome 30 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:617622 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia |
ORPHA:370980 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... |
OMIM:221900 |
Neuraminidase Deficiency |
|
Cataract, Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked s... |
OMIM:256550 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... |
OMIM:616860 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Macular coloboma |
OMIM:613835 |
Harderoporphyria |
|
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... |
OMIM:618892 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:545 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Corneal opacity |
ORPHA:93476 |
Immunodeficiency 48 |
|
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... |
OMIM:269840 |
Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice |
OMIM:619658 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytop... |
ORPHA:79312 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... |
OMIM:618534 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:613101 |
Morning Glory Disc Anomaly |
|
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615085 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia |
ORPHA:171844 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati... |
OMIM:194380 |
Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia... |
ORPHA:79477 |
Cholestasis-Lymphedema Syndrome |
|
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
OMIM:214900 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2772 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... |
OMIM:209950 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:664 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ... |
OMIM:611490 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter... |
OMIM:617394 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... |
OMIM:607594 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly |
OMIM:616589 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... |
OMIM:601859 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:617201 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Multiple Sulfatase Deficiency |
|
Cataract, Optic atrophy, Splenomegaly, Abnormality of retinal pigmentation, Mucopolysacchariduria... |
ORPHA:585 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic an... |
OMIM:603909 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... |
OMIM:235700 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Norrie Disease |
|
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... |
OMIM:310600 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia |
OMIM:164180 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
Alpha-Mannosidosis, Adult Form |
|
Cataract, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Corneal opacity, Optic disc pallor |
ORPHA:309288 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... |
OMIM:602347 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,... |
OMIM:263200 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi... |
OMIM:216360 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Retinal detachment, Macular atrophy, Buphthalmos, Iris coloboma |
OMIM:212550 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Polymicrogyria, Type II lissencephaly, Pachygyria, Subcortical heterotopia, Agyria, Gray matter h... |
OMIM:614643 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... |
OMIM:603903 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephritis, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr... |
OMIM:203780 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia |
OMIM:618974 |
Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, Uveal ectropion... |
OMIM:609049 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Papillorenal Syndrome |
|
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Macular degener... |
OMIM:120330 |
Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Hepatitis, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemi... |
ORPHA:294 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... |
OMIM:615234 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc... |
ORPHA:848 |
Amyloidosis, Finnish Type |
|
Cataract, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, ... |
OMIM:105120 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti... |
OMIM:266200 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... |
ORPHA:899 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... |
OMIM:613470 |
Periventricular Nodular Heterotopia |
|
Periventricular heterotopia |
ORPHA:98892 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Hydronephros... |
OMIM:243605 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... |
OMIM:618935 |
Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop... |
ORPHA:457077 |
Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Conjunctival icter... |
ORPHA:53035 |
Scheie Syndrome |
|
Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Corneal opacity |
ORPHA:93474 |
Proteus-Like Syndrome |
|
Cataract, Thymus hyperplasia, Abnormal pupil morphology, Splenomegaly, Heterochromia iridis, Reti... |
ORPHA:2969 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration |
ORPHA:93274 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color |
ORPHA:90037 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... |
ORPHA:77259 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ... |
ORPHA:231222 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Nuclear cataract, Tractional retinal detachment, Retinal detachment, Cortical cataract,... |
OMIM:616468 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... |
OMIM:601847 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2518 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... |
ORPHA:2211 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Gray matter heterotopia, Polymicrogyria |
ORPHA:370959 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Macular atrophy, Hepatomegaly |
OMIM:230800 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Periventricular heterotopia |
ORPHA:255138 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone... |
OMIM:268315 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... |
OMIM:602450 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunct... |
OMIM:269200 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha... |
ORPHA:464329 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:620296 |
Desmosterolosis |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... |
ORPHA:35107 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia |
ORPHA:2655 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... |
ORPHA:100026 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... |
ORPHA:30 |
Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration |
ORPHA:2481 |
Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Pachygyria |
ORPHA:2065 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:617397 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... |
OMIM:613812 |
Budd-Chiari Syndrome |
|
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... |
ORPHA:131 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Optic atrophy, Renal artery stenosis... |
OMIM:617913 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia |
OMIM:608885 |
Knobloch Syndrome |
|
Cataract, Macular degeneration, Ectopia lentis, Bifid ureter, Vesicoureteral reflux, Retinal deta... |
ORPHA:1571 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern |
OMIM:615219 |
Chiari Malformation Type Ii |
|
Gray matter heterotopia |
OMIM:207950 |
Fuchs Heterochromic Iridocyclitis |
|
Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Optic disc pallor, Pa... |
ORPHA:263479 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Joubert Syndrome |
|
Abnormality of neuronal migration, Polymicrogyria |
ORPHA:475 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... |
OMIM:603554 |
Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia |
ORPHA:531151 |
Van Maldergem Syndrome 1 |
|
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... |
OMIM:601390 |
Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Retinal coloboma, Iris cyst, ... |
OMIM:612109 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... |
ORPHA:2671 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Pachygyria, Polymicrogyria |
ORPHA:157 |
Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia |
OMIM:219730 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia |
OMIM:614105 |
3C Syndrome |
|
Abnormality of neuronal migration |
ORPHA:7 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration |
ORPHA:2318 |
Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:619775 |
Radio-Tartaglia Syndrome |
|
Gray matter heterotopia |
OMIM:619312 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
Meckel Syndrome |
|
Accessory spleen, Cataract, Multicystic kidney dysplasia, Microcornea, Optic atrophy, Pancreatic ... |
ORPHA:564 |
Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
Vici Syndrome |
|
Gray matter heterotopia |
ORPHA:1493 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
Gaucher Disease, Type Iiic |
|
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly, Opacification of the corneal stroma |
OMIM:231005 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration |
ORPHA:163681 |
Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia |
OMIM:187600 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Polymicrogyria |
OMIM:608836 |
Atelis Syndrome 2 |
|
Anemia, Developmental cataract, Thrombocytopenia, Remnants of the hyaloid vascular system |
OMIM:620185 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Pachygyria, Polymicrogyria |
ORPHA:228308 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Gray matter heterotopia |
OMIM:620475 |
Miller-Dieker Lissencephaly Syndrome |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria |
OMIM:247200 |
Thanatophoric Dysplasia Type 1 |
|
Gray matter heterotopia |
ORPHA:1860 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia |
OMIM:619833 |
Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Ascites, Renal insufficiency, Splenomeg... |
OMIM:276700 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration |
ORPHA:192 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Periventricular heterotopia |
OMIM:618870 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration |
ORPHA:261236 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Pachygyria, Gray matter heterotopia, Frontal polymicrogyria |
OMIM:620024 |
Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia |
OMIM:615546 |
6Q Terminal Deletion Syndrome |
|
Abnormality of neuronal migration, Gray matter heterotopia, Periventricular heterotopia, Polymicr... |
ORPHA:75857 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia |
ORPHA:26791 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia |
OMIM:618929 |
Galloway-Mowat Syndrome 1 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:251300 |
Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration |
ORPHA:1454 |
Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia |
OMIM:605039 |
Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Perisylvian predominant ... |
ORPHA:98889 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Norrie Disease |
|
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin... |
ORPHA:649 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration |
ORPHA:2754 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia |
OMIM:618476 |
Koolen-De Vries Syndrome |
|
Gray matter heterotopia |
OMIM:610443 |
Cerebrofacioarticular Syndrome |
|
Gray matter heterotopia |
ORPHA:314679 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Polymicrogyria, Periventricular heterotopia, Pachygyria, Lissencephaly, Simplified gyral pattern |
ORPHA:468631 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Gray matter heterotopia |
OMIM:620654 |
16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia |
ORPHA:261250 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia |
OMIM:618733 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system |
ORPHA:637 |
Neuroocular Syndrome 1 |
|
Cataract, Microcornea, Peters anomaly, Blue irides, Remnants of the hyaloid vascular system, Stel... |
OMIM:619539 |
Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia |
OMIM:276300 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration |
ORPHA:464311 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Gray matter heterotopia |
ORPHA:453499 |
Holoprosencephaly |
|
Abnormality of neuronal migration |
ORPHA:2162 |
Holoprosencephaly 14 |
|
Gray matter heterotopia, Periventricular heterotopia |
OMIM:619895 |
Aicardi Syndrome |
|
Pachygyria, Gray matter heterotopia, Polymicrogyria |
OMIM:304050 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia |
OMIM:305450 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Microcornea, Retinal detachment, Developmental cataract, Remnants of the hyaloid vas... |
OMIM:300166 |
Orofaciodigital Syndrome I |
|
Gray matter heterotopia, Abnormal cortical gyration |
OMIM:311200 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Abnormality of neuronal migration |
ORPHA:3186 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
Vici Syndrome |
|
Gray matter heterotopia |
OMIM:242840 |
Pagod Syndrome |
|
Abnormality of neuronal migration |
ORPHA:991 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:618820 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia |
ORPHA:352665 |
Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia |
OMIM:603671 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Pachygyria, Polymicrogyria, Microlissencephaly, Gray matter heterotopia |
OMIM:210710 |
Arima Syndrome |
|
Gray matter heterotopia |
OMIM:243910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Gray matter heterotopia |
OMIM:615287 |
Fontaine Progeroid Syndrome |
|
Gray matter heterotopia, Periventricular heterotopia |
OMIM:612289 |
Orofaciodigital Syndrome Xiv |
|
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria |
OMIM:615948 |
Hydrolethalus Syndrome 1 |
|
Gray matter heterotopia, Abnormal cortical gyration |
OMIM:236680 |
Smith-Lemli-Opitz Syndrome |
|
Periventricular heterotopia |
OMIM:270400 |
Holoprosencephaly 2 |
|
Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
Orofaciodigital Syndrome Type 14 |
|
Periventricular heterotopia |
ORPHA:434179 |
Proteus Syndrome |
|
Gray matter heterotopia |
ORPHA:744 |
Genitopatellar Syndrome |
|
Pachygyria, Periventricular heterotopia |
OMIM:606170 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Periventricular heterotopia, Polymicrogyria |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Periventricular heterotopia, Polymicrogyria |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Periventricular heterotopia, Polymicrogyria |
ORPHA:261552 |