Attention Deficit-Hyperactivity Disorder |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Erythrocytosis, Familial, 8 |
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Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
8p23.1 deletion syndrome |
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Cryptorchidism, Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal hear... |
DECIPHER:39 |
Polycythemia Vera |
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Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Erythrocytosis, Familial, 3 |
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Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
Erythrocytosis, Familial, 1 |
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Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:133100 |
Dehydrated Hereditary Stomatocytosis |
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Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Cryptorchidism, Atrial septal defect, Anemia, Perimembranous ventricular septal defect, Hypertrop... |
OMIM:620135 |
Cardiomyopathy, Dilated, 1I |
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Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Abcd Syndrome |
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Abnormal auditory evoked potentials, Polycythemia, Aganglionic megacolon, Total intestinal agangl... |
OMIM:600501 |
Hyperlysinemia, Type I |
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Hyperactivity, Anemia |
OMIM:238700 |
Developmental And Epileptic Encephalopathy 43 |
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Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity |
OMIM:617113 |
Hartnup Disorder |
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Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hyperbilirubinemia, Shunt, Primary |
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Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, Splenomegaly |
OMIM:237800 |
Hypermanganesemia With Dystonia 1 |
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Steppage gait, Hepatomegaly, Polycythemia |
OMIM:613280 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Cyanosis, Transient Neonatal |
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Hepatomegaly, Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Erythrocytosis, Familial, 2 |
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Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:263400 |
Glutamate-Cysteine Ligase Deficiency |
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Hepatosplenomegaly, Reticulocytosis, Ataxia, Hemolytic anemia |
ORPHA:33574 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anisocytosis, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, Erythroid h... |
OMIM:615631 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... |
ORPHA:766 |
Dehydrated Hereditary Stomatocytosis 2 |
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Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
Poems Syndrome |
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Polycythemia, Hypogonadism, Papilledema, Pericardial effusion, Thrombocytosis, Visceromegaly |
ORPHA:2905 |
Glut1 Deficiency Syndrome 2 |
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Reticulocytosis, Ataxia, Hemolytic anemia, Splenomegaly, Choreoathetosis |
OMIM:612126 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Anemia, Reduced ... |
OMIM:613673 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Gait disturbance, Inability to walk, Hyperactivity, Gait ataxia, Dysmetria |
OMIM:618090 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia |
ORPHA:284227 |
Attrv122I Amyloidosis |
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Left ventricular hypertrophy, Anemia, Cardiac amyloidosis, Abnormal autonomic nervous system phys... |
ORPHA:85451 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
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Attention deficit hyperactivity disorder, Hyperactivity, Patent foramen ovale |
OMIM:617182 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Cardiomegaly, Macroorchidism |
OMIM:300886 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Gait disturbance, Polycythemia, Difficulty walking, Hepatomegaly, Dysdiadochokinesis, Hypertrophi... |
ORPHA:309854 |
Attrv30M Amyloidosis |
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Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology |
ORPHA:85447 |
Developmental And Epileptic Encephalopathy 109 |
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Gait ataxia, Crouch gait, Hyperactivity, Left ventricular hypertrophy |
OMIM:620145 |
Congenital Toxoplasmosis |
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Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia |
ORPHA:858 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Steppage gait, Testicular dysgen... |
ORPHA:168563 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
Osteopetrosis, Autosomal Recessive 4 |
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Reticulocytosis, Anemia, Hepatomegaly, Optic disc pallor, Facial palsy, Thrombocytopenia, Optic a... |
OMIM:611490 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Limb ataxia, Gait disturbance, Unsteady gait, Ataxia, Cardiomyopathy, Optic atrophy, Gait ataxia,... |
OMIM:619259 |
Spherocytosis, Type 5 |
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Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, Spherocytos... |
OMIM:612690 |
Red Cell Phospholipid Defect With Hemolysis |
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Reticulocytosis, Splenomegaly |
OMIM:179700 |
Overhydrated Hereditary Stomatocytosis |
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Anisocytosis, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Stomatocytosis... |
ORPHA:3203 |
Amed Syndrome, Digenic |
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Leukopenia, Anemia, Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Thrombocy... |
OMIM:619151 |
Livedoid Vasculopathy |
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Leukocytosis, Polycythemia, Anemia, Pancytopenia, Abnormality of the peripheral nervous system |
ORPHA:542643 |
Mucopolysaccharidosis, Type Iiib |
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Asymmetric septal hypertrophy, Hyperactivity, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Left atrial enlargement, Left ventricular hypertrophy, Difficulty walking, Cardiomyopathy, Ventri... |
OMIM:300280 |
Neuraminidase Deficiency |
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Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Splen... |
OMIM:256550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Limb ataxia, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Truncal ataxia |
OMIM:619051 |
Hsd10 Disease, Infantile Type |
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Restlessness, Loss of ambulation, Optic atrophy, Dysphagia, Hypertrophic cardiomyopathy, Cardiome... |
ORPHA:391428 |
Congenital Myopathy 8 |
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Cardiomegaly |
OMIM:618654 |
Ogden Syndrome |
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Secundum atrial septal defect, Decreased testicular size, Cryptorchidism, Polycythemia, Left atri... |
OMIM:300855 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Inability to walk, Steppage gait, Aortic valve stenosis, Macroorchidism, Mitral valve prolapse, C... |
ORPHA:324410 |
Fumarase Deficiency |
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Perimembranous ventricular septal defect, Polycythemia, Optic atrophy |
OMIM:606812 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly |
OMIM:613576 |
Infantile Sialic Acid Storage Disease |
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Vacuolated lymphocytes, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:269920 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Reticulocytosis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Neurooculocardiogenitourinary Syndrome |
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Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Patent foramen ovale, ... |
OMIM:618652 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... |
OMIM:224120 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... |
ORPHA:860 |
Sickle Cell Anemia |
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Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Cryohydrocytosis |
|
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
46,Xy Sex Reversal 3 |
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Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Exaggerated rugosity of the l... |
OMIM:612965 |
Optic Atrophy 11 |
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Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Facial diplegia, Attention de... |
OMIM:617302 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy |
OMIM:614702 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis |
ORPHA:615 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Reticulocytosis, Hemolytic anemia, Reduced erythrocyte adenosine triphosphate concentration, Stom... |
OMIM:301083 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
Von Hippel-Lindau Disease |
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Myocarditis, Polycythemia, Papilledema, Cardiomyopathy, Papillary cystadenoma of the epididymis, ... |
ORPHA:892 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... |
ORPHA:755 |
Hemochromatosis, Type 1 |
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Testicular atrophy, Cardiomyopathy, Hepatomegaly, Splenomegaly, Azoospermia, Cardiomegaly, Hypogo... |
OMIM:235200 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
46,Xx Ovotesticular Difference Of Sex Development |
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Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
Spherocytosis, Type 2 |
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Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly |
OMIM:616649 |
46,Xy Sex Reversal 11 |
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Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Abnormal internal geni... |
OMIM:273250 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Inability to walk, Tip-toe gait, Right ventricular hypertrophy, Dysphagia, Brachial plexus neurop... |
ORPHA:268 |
Phosphoglycerate Kinase 1 Deficiency |
|
Ataxia, Reticulocytosis, Erythroid hyperplasia, Hemolytic anemia |
OMIM:300653 |
Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Papillary cystadenoma of the epididymis, Polycythemia |
OMIM:193300 |
Fixed Subaortic Stenosis |
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Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:3092 |
Pseudo-Torch Syndrome 3 |
|
Congenital thrombocytopenia, Cardiomegaly, Leukocytosis, Anemia |
OMIM:618886 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
Mulibrey Nanism |
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Myocardial fibrosis, Cardiomegaly, Hepatomegaly, Pericardial constriction |
OMIM:253250 |
Sickle Cell Disease |
|
Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Cardiomegaly, Spl... |
OMIM:603903 |
Stankiewicz-Isidor Syndrome |
|
Abnormal optic disc morphology, Cryptorchidism, Shawl scrotum, Micropenis, Hyperactivity, Ventric... |
OMIM:617516 |
Hereditary Spherocytosis |
|
Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concentratio... |
ORPHA:822 |
Spherocytosis, Type 4 |
|
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612653 |
Hepatocellular Carcinoma |
|
Polycythemia, Anemia, Hepatomegaly, Thrombocytopenia, Thrombocytosis |
ORPHA:88673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right atrial... |
ORPHA:555874 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Reticulocytosis, Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Splenom... |
OMIM:235700 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Reticulocytosis, Hepatomegaly, Decreased hemoglobin conce... |
OMIM:266200 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly, Ataxia |
OMIM:266500 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal... |
ORPHA:99429 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... |
OMIM:115197 |
Beckwith-Wiedemann Syndrome |
|
Cryptorchidism, Polycythemia, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Hypertrophic cardiom... |
ORPHA:116 |
Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Left ventricular hypertrophy, Atrial septal defe... |
ORPHA:79330 |
Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Ambiguous genitalia, Tetralogy of Fallot, Atrial septal defect, Ventricul... |
OMIM:618280 |
Partial Androgen Insensitivity Syndrome |
|
Perineal hypospadias, Micropenis, Ambiguous genitalia, Fused labia majora, Clitoral hypertrophy, ... |
ORPHA:90797 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Limb ataxia, Ataxia, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hy... |
OMIM:105210 |
Diethylstilbestrol Syndrome |
|
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... |
ORPHA:1916 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly, Ataxia |
ORPHA:42 |
Spherocytosis, Type 1 |
|
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:182900 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Splenomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Mitral stenos... |
OMIM:231005 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... |
ORPHA:2041 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Po... |
OMIM:300908 |
Harderoporphyria |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:618892 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Attention deficit hyperactivity disorder, Ventricular septal defect |
OMIM:618798 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Iron deficiency anemia |
ORPHA:99931 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Increased mean corpuscular volume, Stomatocytosi... |
OMIM:185000 |
Timothy Syndrome |
|
Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Anemia, Hepatomegaly, Dysphagia, Thrombocytopenia, Akinesia, Cardiomegaly, Sp... |
OMIM:608013 |
47,Xyy Syndrome |
|
Cryptorchidism, Hyperactivity, Micropenis, Attention deficit hyperactivity disorder, Varicocele, ... |
ORPHA:8 |
46,Xy Sex Reversal 7 |
|
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... |
OMIM:233420 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Reticulocytosis, Ataxia, Hemolytic anemia |
ORPHA:713 |
Sandhoff Disease |
|
Hepatosplenomegaly, Ataxia, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
Hereditary Elliptocytosis |
|
Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Stomatocytosi... |
ORPHA:288 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Hypospadias |
OMIM:616897 |
Chromosome 15Q25 Deletion Syndrome |
|
Dextrocardia, Cryptorchidism, Hyperactivity, Ventricular septal defect, Attention deficit hyperac... |
OMIM:614294 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... |
ORPHA:35858 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Reticulocytosis, Hemolytic anemia |
OMIM:611590 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Left ventricular hypertrophy, Alcoholism, Hepatomegaly, Right atrial enl... |
ORPHA:57777 |
Isolated Right Ventricular Hypoplasia |
|
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia,... |
ORPHA:760 |
Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Asplenia, Ventricular septal defect, Atrial septal defect, Atrioventricul... |
OMIM:306955 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration,... |
OMIM:194380 |
Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Hypochromia, Macrocytic anem... |
ORPHA:71275 |
Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Testicular Agenesis |
|
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... |
ORPHA:325124 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... |
ORPHA:1457 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Cardiomyopathy, Hepatomegaly, Splenomegaly, Cardiomegaly, Hypogonadotropic hy... |
ORPHA:465508 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... |
OMIM:278850 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Inability to walk, Atrial septal defect, Ventricular septal defect... |
OMIM:620066 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricular hypertrophy |
OMIM:617713 |
Mucopolysaccharidosis Type 3 |
|
Gait disturbance, Hyperactivity, Ataxia, Disinhibition, Abnormal mitral valve morphology, Loss of... |
ORPHA:581 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Reticulocytosis, Anemia, Giant platelets, Stomatocytosis, Thrombocytop... |
OMIM:210250 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
Abetalipoproteinemia |
|
Reticulocytosis, Ataxia, Anemia, Steppage gait, Hepatomegaly, Acanthocytosis, Gait ataxia, Cardio... |
ORPHA:14 |
Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Inability to walk, Gait disturbance, Ataxia, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Craniofaciofrontodigital Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Bicuspid aortic... |
ORPHA:363705 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Thrombocytopenia, Aplasia of the uterus, Tetralogy of Fallot |
ORPHA:3320 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Micropenis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defec... |
OMIM:602782 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Abnormality of neutrophil physiology,... |
ORPHA:2968 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis |
OMIM:266810 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Dysdiadochokinesis, Dysphagia, Gait ataxia, Impulsivity, Optic atrophy, Dysmetria |
OMIM:610217 |
Fucosidosis |
|
Vacuolated lymphocytes, Hepatomegaly, Spastic gait, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Complete Atrioventricular Septal Defect |
|
Abnormal cardiac atrium morphology, Primum atrial septal defect, Hepatomegaly, Complete atriovent... |
ORPHA:1329 |
Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial fibrosis, Ca... |
OMIM:300257 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Pseudopapilledema, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Micropenis, Ambiguous genitalia, male, Precocious puberty in females, Female external genitalia i... |
ORPHA:90793 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Cardiomegaly, Ventricular septal defect |
OMIM:617022 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Ataxia, Atrial septal defect, Vent... |
OMIM:300967 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormal heart morphology, Septate vagina, Vaginal atresia, Uterus didelphys, Aplasia of the uterus |
ORPHA:2237 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... |
OMIM:601214 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Lumbar Syndrome |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid uterus, Bifid sc... |
ORPHA:83628 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Ambiguous genitalia, ... |
ORPHA:168558 |
Glycogen Storage Disease Ii |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Difficulty walking |
OMIM:232300 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Ambiguous genitalia, ... |
ORPHA:289548 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney |
OMIM:608836 |
Cantú Syndrome |
|
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy |
ORPHA:1517 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricular hypertrophy... |
OMIM:261740 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Cardiomegaly, Labial hypertrophy, Precoc... |
ORPHA:96191 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:614921 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Atrial septal defect, Bicuspid aortic valve, Patent foramen ovale, ... |
OMIM:245600 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
Legius Syndrome |
|
Acute monocytic leukemia, Hyperactivity, Pulmonic stenosis, Vestibular schwannoma, Attention defi... |
ORPHA:137605 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Inability to walk, Difficulty walking, Left ventricular hypertrophy, Hepatomegaly, Dysphagia, Hyp... |
ORPHA:365 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Optic atrophy, Cardiomegaly |
ORPHA:137675 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Ventricul... |
ORPHA:3384 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Polycythemia, Anemia |
OMIM:600376 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly |
ORPHA:228308 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Meckel Syndrome 14 |
|
Single ventricle, Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Hyperactivity, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Beckwith-Wiedemann Syndrome |
|
Cryptorchidism, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomegaly, Cardiomegaly, Over... |
OMIM:130650 |
Congenital Tracheomalacia |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... |
ORPHA:95430 |
Fanconi Anemia, Complementation Group L |
|
Attention deficit hyperactivity disorder, Aplasia of the uterus, Micropenis, Anemia |
OMIM:614083 |
Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Tip-toe gait, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:252500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Ventricular septal defect, Atrial septal defect, Tetral... |
OMIM:274000 |
Absence Of The Pulmonary Artery |
|
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... |
ORPHA:980 |
Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Micropenis, Difficulty walking, Chronic lymphatic leukemia, Neonatal alloimmu... |
ORPHA:51 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Polycythemia, Anemia |
OMIM:187300 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly, Inability to walk, Optic atrophy |
ORPHA:97297 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
Oeis Complex |
|
Absent scrotum, Cryptorchidism, Micropenis, Ambiguous genitalia, male, Epispadias, Labial hypopla... |
OMIM:258040 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Pontocerebellar Hypoplasia Type 7 |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Abnormal scr... |
ORPHA:284339 |
Williams Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Gait imbalance, Hypertrophi... |
ORPHA:904 |
Liver Disease, Severe Congenital |
|
Leukopenia, Left atrial enlargement, Anemia, Ventricular septal defect, Atrial septal defect, Hep... |
OMIM:619991 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Aplasia of the vagina, Pica, Aplasia of the uterus |
OMIM:614527 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Decreased testicular size, Ambiguous genitalia, Fused labia majora... |
ORPHA:90794 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... |
ORPHA:99125 |
Yunis-Varon Syndrome |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot,... |
ORPHA:3472 |
Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... |
ORPHA:75565 |
Okamoto Syndrome |
|
Abnormal left ventricle morphology, Ventricular septal defect, Abnormal mitral valve morphology, ... |
ORPHA:2729 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Exstrophy-Epispadias Complex |
|
Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Abnormal heart morphology, Ab... |
ORPHA:322 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Thrombocytopenia, Cardiomegaly, Splenomegaly, Epididymitis |
OMIM:256040 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Absent external genitalia, Aplasia of the uterus |
OMIM:271520 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reticulocytosis, Leukopenia, Hemolytic anemia, Anemia, Dysphagia, Thrombocytopenia, Pancytopenia,... |
ORPHA:447 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cervical insufficiency, Anemia, Uterine rupture, Cystocele, Mitral valve prolapse... |
OMIM:130050 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Bifid uterus, Accessory spleen... |
OMIM:236680 |
Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Clitoral hypertrophy, Tetralogy ... |
OMIM:135900 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Precocious puberty, Atrial septal defect, Ventricular septal defect, Accessory sp... |
OMIM:194190 |
Townes-Brocks Syndrome 1 |
|
Rectoperineal fistula, Cryptorchidism, Atrial septal defect, Tetralogy of Fallot, Ventricular sep... |
OMIM:107480 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Ventricular septal defect, Bifid uterus, Patent foramen ovale, Transposition of t... |
OMIM:256520 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Aplasia of the uterus |
ORPHA:69085 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Waddling gait, Ca... |
OMIM:182250 |
Norrie Disease |
|
Optic atrophy, Attention deficit hyperactivity disorder, Cryptorchidism, Uterine rupture |
ORPHA:649 |
Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Pericardial effusion, Myocardial calcification, Ventricular hypertrophy |
ORPHA:51608 |
Spastic Ataxia 4, Autosomal Recessive |
|
Gait ataxia, Optic atrophy, Limb ataxia, Spastic ataxia |
OMIM:613672 |
Vascular Ehlers-Danlos Syndrome |
|
Cryptorchidism, Abnormal heart valve morphology, Uterine rupture, Cystocele, Mitral valve prolaps... |
ORPHA:286 |
Pallister-Killian Syndrome |
|
Cryptorchidism, Inability to walk, Atrial septal defect, Ventricular septal defect, Labial hypopl... |
OMIM:601803 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Small scrotum, Hypospadias |
OMIM:276820 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy, Progressive gait ataxia, Progressive cerebellar ataxia |
ORPHA:254343 |