Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Hereditary Hyperferritinemia-Cataract Syndrome |
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Cataract |
ORPHA:163 |
Cataract 36 |
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Cataract |
OMIM:613887 |
Cataract 29 |
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Cataract |
OMIM:115800 |
Cataract 35 |
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Cataract |
OMIM:609376 |
Hepatorenocardiac Degenerative Fibrosis |
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Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
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Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... |
ORPHA:66624 |
Nephronophthisis 16 |
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Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Corneal Dystrophy, Groenouw Type I |
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Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Bardet-Biedl Syndrome 18 |
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Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Cataract 42 |
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Cataract, Developmental cataract |
OMIM:115900 |
Nephronophthisis 2 |
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Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Aa Amyloidosis |
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Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
Renal Dysplasia |
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Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Galactosemia Ii |
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Cataract, Galactosuria |
OMIM:230200 |
Morm Syndrome |
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Hyperactivity, Cataract, Abnormality of the kidney, Aggressive behavior, Micropenis |
ORPHA:75858 |
Phenylketonuria |
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Hyperactivity, Cataract, Increased level of hippuric acid in urine, Elevated urinary phenylpyruvi... |
OMIM:261600 |
Cataract-Nephropathy-Encephalopathy Syndrome |
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Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Cataract-Microcornea Syndrome |
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Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Meckel Syndrome, Type 8 |
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Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Thanatophoric Dysplasia, Glasgow Variant |
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Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Intrinsic Factor Deficiency |
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Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
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Cataract, Developmental cataract |
OMIM:613076 |
Cataract 9, Multiple Types |
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Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Megalocornea |
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Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... |
ORPHA:251004 |
Autosomal Dominant Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Mucopolysaccharidosis-Plus Syndrome |
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Hepatomegaly, Proteinuria, Splenomegaly, Anemia, Leukopenia, Nephrotic syndrome, Focal segmental ... |
OMIM:617303 |
Cataract 47 |
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Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Thrombocytopenia 5 |
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B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain di... |
OMIM:608836 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Alport Syndrome 2, Autosomal Recessive |
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Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... |
OMIM:203780 |
Exfoliation Syndrome |
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Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Diaphanospondylodysostosis |
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Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Microphthalmia, Isolated, With Coloboma 3 |
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Cataract, Iris coloboma |
OMIM:610092 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Increased mean corpuscular... |
OMIM:617021 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
H Syndrome |
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Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Corneal arcus, Micropenis, Enla... |
ORPHA:168569 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Kaposiform Lymphangiomatosis |
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Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Multiple renal cysts, Enlar... |
ORPHA:464329 |
Familial Pseudohyperkalemia |
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Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Stomatocytosis, Increased mean cor... |
OMIM:185000 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn... |
OMIM:208540 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Neu... |
OMIM:232220 |
Hypoparathyroidism, Familial Isolated, 1 |
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Nephrocalcinosis, Irritability, Cataract |
OMIM:146200 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:613839 |
Immunodeficiency 96 |
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Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Nephroti... |
ORPHA:505248 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
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Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias |
ORPHA:1381 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Tyrosinemia, Type I |
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Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Denys-Drash Syndrome |
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Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Glycogen Storage Disease Ia |
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Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Thickened g... |
OMIM:308940 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop... |
ORPHA:500095 |
Anterior Segment Dysgenesis 7 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Wolfram Syndrome 1 |
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Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Dysphagia,... |
OMIM:222300 |
Methylcobalamin Deficiency Type Cble |
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Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Increased mean corpus... |
ORPHA:2169 |
Acrocephalopolydactylous Dysplasia |
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Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Polysplenia |
OMIM:200995 |
Lymphoid Interstitial Pneumonia |
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Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney |
ORPHA:79128 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Incr... |
ORPHA:100924 |
Wagro Syndrome |
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Cataract, Corneal opacity, Proteinuria, Aggressive behavior, Agitation, Low frustration tolerance... |
OMIM:612469 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Erythroid hypoplasia,... |
ORPHA:124 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Microcornea, Cataract, Aniridia |
OMIM:106230 |
Oslam Syndrome |
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Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent urinary tract infections, Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysph... |
OMIM:615873 |
Cataract 10, Multiple Types |
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Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Autosomal Dominant Keratitis |
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Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Proteinuria, Chronic neutropenia, Stage 5 chronic kidney disease, Nephrolithiasis, ... |
ORPHA:79259 |
Autosomal Recessive Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Polydipsia, Hypersplenism, Splenomegaly,... |
ORPHA:731 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
Aniridia 2 |
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Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Igg4-Related Kidney Disease |
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Renal insufficiency, Proteinuria, Eosinophilia, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Peroxisome Biogenesis Disorder 10B |
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Nephrocalcinosis, Neurogenic bladder, Cataract |
OMIM:617370 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Ectopia Lentis Et Pupillae |
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Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str... |
OMIM:252500 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Irritability, Abnormal renal artery... |
ORPHA:79328 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Neutropenia, Vesicoureter... |
OMIM:612562 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten... |
OMIM:617052 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Renal cyst, Self-injurious behavior, ... |
ORPHA:488618 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Thrombocytopenia, Abnormal repetitive mannerisms, Iron d... |
OMIM:300855 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia |
OMIM:277410 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of... |
OMIM:120330 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
16Q24.3 Microdeletion Syndrome |
|
Astigmatism, Dysphagia, Thrombocytopenia, Increased mean corpuscular volume |
ORPHA:261250 |
Dent Disease |
|
Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,... |
ORPHA:1652 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney |
OMIM:306955 |
Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... |
OMIM:310600 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... |
OMIM:105650 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Polysplenia, Ne... |
OMIM:312870 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Enlarged kidney, Patent urachus, Micropenis, Penoscrotal hypospadias |
OMIM:618280 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Cataract, Mild proteinuria, Anorexia, Anterior chamber flare, Renal neutrophil... |
ORPHA:91500 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri... |
OMIM:609049 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Cataract, Hypospadias, Hyperactivity, Impulsivity, Aggressive... |
ORPHA:353281 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle |
OMIM:227645 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Cataract, Hypospadias, Abnormality of the kidney, Impulsivity... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Cataract, Hypospadias, Abnormality of the kidney, Impulsivity... |
ORPHA:353277 |
Fanconi Anemia, Complementation Group D2 |
|
Prolonged G2 phase of cell cycle |
OMIM:227646 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Hypochromic microcytic anemia, Iron deficiency anemia, Increas... |
ORPHA:97214 |