Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Diamond-Blackfan Anemia 3 |
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Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Intrinsic Factor Deficiency |
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Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
Hemoglobin E Disease |
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Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Thrombocytopenia 5 |
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Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Diamond-Blackfan Anemia 8 |
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Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Familial Pseudohyperkalemia |
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Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
Overhydrated Hereditary Stomatocytosis |
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Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Dehydrated Hereditary Stomatocytosis |
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Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
Congenital Dyserythropoietic Anemia Type Iii |
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Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilo... |
ORPHA:98870 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Oslam Syndrome |
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Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
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Exaggerated startle response |
OMIM:617028 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Megaloblastic anemia, Dystonia, Increased mean corpuscular volume |
OMIM:277410 |
Diamond-Blackfan Anemia 6 |
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Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Sickle Cell Anemia |
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Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... |
OMIM:616860 |
Methylcobalamin Deficiency Type Cble |
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Vomiting, Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia |
ORPHA:2169 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... |
OMIM:615234 |
Majeed Syndrome |
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Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
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Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Exocrine pancrea... |
OMIM:617052 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Esophagitis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Immunodeficiency 96 |
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Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Shwachman-Diamond Syndrome |
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Normocytic anemia, Aplastic anemia, Leukemia, Increased mean corpuscular volume, Exocrine pancrea... |
ORPHA:811 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Dysphagia, Thrombocytopenia |
ORPHA:261250 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Diamond-Blackfan Anemia |
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Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Refractory Anemia With Excess Blasts |
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Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... |
ORPHA:86839 |
Hyperekplexia 2 |
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Gastroesophageal reflux, Exaggerated startle response |
OMIM:614619 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec... |
ORPHA:300298 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Blepharospasm, Oculogyric crisis, Diarrhea, Gastroesophageal reflux, Limb dystonia, Constipation,... |
OMIM:608643 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Diarrhea, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Poikilocytosis, Ellipt... |
OMIM:618278 |
Hyperekplexia 3 |
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Gastroesophageal reflux, Exaggerated startle response |
OMIM:614618 |
Dominant Beta-Thalassemia |
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Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato... |
ORPHA:231226 |
Trichothiodystrophy 6, Nonphotosensitive |
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Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
Diamond-Blackfan Anemia 1 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Beta-Thalassemia Intermedia |
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Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
Beta-Thalassemia Major |
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Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepato... |
ORPHA:231214 |
Stiff-Person Syndrome |
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Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Gastroesophageal reflux, Exaggerated startle response |
OMIM:620114 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
Leukodystrophy, Hypomyelinating, 13 |
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Vomiting, Exaggerated startle response |
OMIM:616881 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Gastroesophageal reflux, Exaggerated startle response |
OMIM:608800 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response |
OMIM:609541 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Sandhoff Disease, Infantile Form |
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Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Castleman Disease |
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Anemia, Thrombocytopenia, Decreased mean corpuscular volume, Intestinal obstruction |
ORPHA:160 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
Sandhoff Disease |
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Hepatosplenomegaly, Chronic diarrhea, Exaggerated startle response |
OMIM:268800 |
Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Eisenmenger Syndrome |
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Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
Glycine Encephalopathy With Normal Serum Glycine |
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Dysphagia, Exaggerated startle response |
OMIM:617301 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, Exaggerated startle response |
ORPHA:438216 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response |
OMIM:617864 |
Tay-Sachs Disease |
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Laryngeal dystonia, Tremor, Exaggerated startle response, Dystonia, Dysphagia |
ORPHA:845 |
Combined Oxidative Phosphorylation Deficiency 58 |
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Vomiting, Exaggerated startle response |
OMIM:620451 |
Plaa-Associated Neurodevelopmental Disorder |
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Dystonia, Impaired oropharyngeal swallow response, Exaggerated startle response |
ORPHA:521426 |
Asparagine Synthetase Deficiency |
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Gastroesophageal reflux, Tremor, Exaggerated startle response |
OMIM:615574 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Dystonia, Thrombocytopenia, Exaggerated startle response |
OMIM:620423 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Dysphagia, Exaggerated startle response |
OMIM:617527 |
Gm1 Gangliosidosis Type 1 |
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Hepatosplenomegaly, Exaggerated startle response |
ORPHA:79255 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Dysphagia, Exaggerated startle response |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Gastroesophageal reflux, Constipation, Exaggerated startle response, Anemia, Dystonia, Dysphagia |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Dysphagia, Exaggerated startle response |
OMIM:619522 |