Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Anemia, Hyperlysinuria, Hyperactivity, Ectopia lentis |
OMIM:238700 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Cataract, Rod-cone dystrophy |
OMIM:615995 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, Retinopathy, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F... |
ORPHA:251380 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level |
OMIM:233650 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... |
OMIM:614292 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Morm Syndrome |
|
Retinal dystrophy, Cataract, Retinal atrophy, Hyperactivity |
ORPHA:75858 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus, Decreased HDL cholesterol concentration |
OMIM:618463 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612924 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612926 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Hyperprolinemia, Type I |
|
Prolinuria, Hyperactivity, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239500 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninemia, Hyperthreoninuria, Optic disc drusen, Attenuation of retinal blood vessels, Ca... |
OMIM:204000 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis |
ORPHA:54057 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Neonatal death |
OMIM:613390 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Pancytopenia |
OMIM:617872 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612925 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... |
OMIM:251270 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Anemia, Neutropenia, Hyperuricemia |
OMIM:617056 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... |
ORPHA:1473 |
Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria, Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioreti... |
ORPHA:414 |
Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinemia, Impulsivity, Restlessness, Hyperglycinuria |
OMIM:605899 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Fanconi Anemia, Complementation Group T |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Polyphagia, Hyper... |
OMIM:620085 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Rod-cone dystrophy, Microcornea |
OMIM:619082 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... |
OMIM:312600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Senior-Loken Syndrome 1 |
|
Retinal dystrophy, Elevated circulating creatinine concentration, Anemia, Polydipsia |
OMIM:266900 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:274150 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... |
OMIM:212550 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
Phenylketonuria |
|
Hyperactivity, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Cataract, Attention deficit... |
OMIM:261600 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal fold, Optic atrophy, Agitation, Microcornea, Astigmatism, Cataract, Attention deficit hyp... |
OMIM:152950 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Increased circulating very ... |
OMIM:614307 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... |
OMIM:616959 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
C3 Glomerulopathy |
|
Yellow/white lesions of the retina, Elevated circulating creatinine concentration, Central serous... |
ORPHA:329918 |
Bardet-Biedl Syndrome 9 |
|
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Polydipsia |
OMIM:619468 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis |
ORPHA:1068 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage |
OMIM:617883 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis |
OMIM:607665 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia |
ORPHA:171844 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... |
ORPHA:91547 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Cataract, Elevated transferrin saturation, Anemia |
OMIM:606069 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Astigmatism, Decreased HDL cholesterol concentration, Iron deficiency... |
OMIM:618885 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy, Elevated circulating phytanic acid concentration |
OMIM:614879 |
Papillorenal Syndrome |
|
Morning glory anomaly, Lens luxation, Macular degeneration, Cataract, Chorioretinal atrophy, Macu... |
OMIM:120330 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Congenital Primary Aphakia |
|
Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co... |
ORPHA:83461 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Chorioretinal coloboma |
OMIM:619111 |
Intermediate Uveitis |
|
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... |
ORPHA:279914 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Galactosemia I |
|
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Hemolytic an... |
OMIM:230400 |
Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Cataract, Increased circulating ferritin concentration, Elevat... |
ORPHA:254704 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Oculoauricular Syndrome |
|
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Cataract, Attenuation of retinal blood vessels |
OMIM:614376 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Cataract, Dysphagia, Thrombocytopenia,... |
OMIM:222300 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Hypoalbuminemia |
OMIM:608104 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Methylcobalamin Deficiency Type Cble |
|
Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased mean corpuscul... |
ORPHA:2169 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Developmental cataract, Impulsivity, Attention deficit hyperactivity disorder, Myo... |
OMIM:620141 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Thrombocytopenia, Elevated circulating creatinine concentration, Leukocytosis |
ORPHA:90060 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Normocytic anemia, Retinal cotton wool spot, Retinal neovascularization, Elevated ... |
ORPHA:247691 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Retinal dystrophy, Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Optic disc pallor, ... |
ORPHA:423479 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... |
ORPHA:91495 |
Enhanced S-Cone Syndrome |
|
Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy |
OMIM:268100 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Idiopathic Panuveitis |
|
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... |
OMIM:106210 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Astigmatism, Dysphagia, Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... |
OMIM:221900 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... |
ORPHA:231222 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Vitreous hemorrhage, Reduced hematocrit, Macular edema, Anterior chamber flare, Po... |
ORPHA:91500 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... |
OMIM:619774 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Developmental glaucoma, Leukopenia, Reticulocytopenia, Pure red cell apla... |
ORPHA:124 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration |
ORPHA:230 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... |
ORPHA:760 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability |
ORPHA:100 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:210900 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... |
ORPHA:90038 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Recurrent corneal erosions, Corneal ulceration, Elevated circulati... |
OMIM:223900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... |
OMIM:608836 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal cor... |
ORPHA:411634 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Anemia, Hyperuricemia |
OMIM:174000 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... |
ORPHA:231214 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Werner Syndrome |
|
Retinal degeneration, Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Anemia, Hepatosplenomegaly, Decreased HDL cholesterol concentration, Decreased circulating apolip... |
ORPHA:85450 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Fanconi Anemia, Complementation Group F |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... |
OMIM:609049 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Hyperkalemia, Cataract, Nuclear cataract, Splenomegaly, Conjuga... |
OMIM:608885 |
Fanconi Anemia, Complementation Group E |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:600901 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Fanconi Anemia, Complementation Group A |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227650 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... |
ORPHA:330015 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Hypocalcemia, Elevated circulating creatine kinase con... |
ORPHA:36234 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Astigmatism, Persistence of hemoglobin F |
OMIM:619769 |
Icf Syndrome |
|
Abnormality of chromosome stability, Umbilical hernia |
ORPHA:2268 |
Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Normocytic anemia, Elevated circulating creatinine concentration, ... |
ORPHA:49041 |
Fanconi Anemia, Complementation Group C |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227645 |
Multiple Myeloma |
|
Anemia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Splenomegaly |
ORPHA:29073 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent cornea... |
OMIM:256800 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration, Optic disc coloboma, Polydipsia |
ORPHA:2260 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Fanconi Anemia, Complementation Group D2 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227646 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Lig4 Syndrome |
|
Abnormality of chromosome stability |
ORPHA:99812 |
Immunodeficiency 17 |
|
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... |
OMIM:615607 |
Hemorrhagic Fever-Renal Syndrome |
|
Anemia, Hyperphosphatemia, Hyperkalemia, Agitation, Leukocytosis, Elevated circulating creatinine... |
ORPHA:340 |
Marburg Hemorrhagic Fever |
|
Conjunctival hyperemia, Leukopenia, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulati... |
ORPHA:99826 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin, Optic atrophy |
ORPHA:847 |
Meningioma |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability |
OMIM:300514 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Abnormality of chromosome stability |
ORPHA:175 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Eisenmenger Syndrome |
|
Hyperuricemia, Hypochromic microcytic anemia, Abnormal B-type natriuretic peptide concentration, ... |
ORPHA:97214 |
Revesz Syndrome |
|
Abnormality of chromosome stability |
OMIM:268130 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration, Granulomatosis |
ORPHA:93126 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Yellow Fever |
|
Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... |
ORPHA:99829 |
Fanconi Anemia |
|
Spina bifida, Abnormality of chromosome stability, Umbilical hernia |
ORPHA:84 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability |
ORPHA:647 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
Moebius Syndrome |
|
Corneal opacity, Dysphagia |
ORPHA:570 |