Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... |
OMIM:205950 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... |
OMIM:616689 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... |
OMIM:261000 |
Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... |
OMIM:616860 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... |
ORPHA:158048 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr... |
ORPHA:98870 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... |
ORPHA:90041 |
Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... |
OMIM:185000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... |
OMIM:206100 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... |
OMIM:603902 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Sideroblastic ane... |
OMIM:617021 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... |
OMIM:615234 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Multiple Myeloma |
|
Acute kidney injury, Anemia, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hyperproteinemia, E... |
ORPHA:29073 |
Sickle Cell Anemia |
|
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... |
ORPHA:232 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... |
OMIM:613839 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... |
ORPHA:90044 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Homocystinuria, Increased mean corpuscular volume, Hyperhomocystinemia, M... |
OMIM:277410 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... |
ORPHA:3203 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hy... |
ORPHA:2169 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... |
OMIM:620367 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... |
OMIM:267700 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi... |
ORPHA:398063 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia |
OMIM:613977 |
Beta-Thalassemia Intermedia |
|
Decreased liver function, Cirrhosis, Abnormality of iron homeostasis, Jaundice, Hepatomegaly, Cho... |
ORPHA:231222 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat... |
ORPHA:247585 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Distal renal tubular acidosis, Hypokalemia, Reticulocytosis, Nephrocalcinosis, Hepat... |
OMIM:611590 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transamina... |
OMIM:603553 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Decreased t... |
ORPHA:300298 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... |
OMIM:613673 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis |
OMIM:226300 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... |
OMIM:617948 |
Omenn Syndrome |
|
Hepatomegaly, Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymp... |
OMIM:603554 |
Majeed Syndrome |
|
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... |
OMIM:609628 |
Nephrotic Syndrome, Type 22 |
|
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Nephrotic syndrome, Microscop... |
OMIM:619155 |
Nephrotic Syndrome, Type 1 |
|
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Proteinuria... |
OMIM:256300 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... |
OMIM:617052 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... |
ORPHA:86839 |
Leptospirosis |
|
Acute kidney injury, Jaundice, Hepatomegaly, Cellular urinary casts, Thrombocytopenia, Elevated s... |
ORPHA:509 |
Immunodeficiency 43 |
|
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... |
OMIM:241600 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Shwachman-Diamond Syndrome |
|
Aplastic anemia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Macrocytic anem... |
ORPHA:811 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, V... |
OMIM:615895 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenome... |
ORPHA:848 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Horseshoe kidney, Ne... |
OMIM:612562 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Hepatic necrosis, Leukopen... |
OMIM:127550 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne... |
OMIM:619774 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoprot... |
ORPHA:90362 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Dengue Fever |
|
Thrombocytopenia, Hypoproteinemia, Leukopenia, Hepatomegaly |
ORPHA:99828 |
Johanson-Blizzard Syndrome |
|
Anemia, Hypospadias, Hypoplasia of penis, Hypoproteinemia, Hydronephrosis, Exocrine pancreatic in... |
ORPHA:2315 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
Dominant Beta-Thalassemia |
|
Cirrhosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Jaundice, Decreased me... |
ORPHA:231226 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Cirrhosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, J... |
ORPHA:231214 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Jaundice, Hypoproteinemia, Elevated circulating hepatic transaminase concentration, Tremor |
OMIM:608093 |
Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... |
ORPHA:846 |
Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased pro... |
ORPHA:167 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Hydronephrosis, Splenom... |
OMIM:235255 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Hydronephrosis, Hepatos... |
ORPHA:1655 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypocalcemia, Hy... |
ORPHA:26793 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... |
OMIM:618278 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Liver Disease, Severe Congenital |
|
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Biliary ... |
OMIM:619991 |
Castleman Disease |
|
Jaundice, Anemia, Hematuria, Elevated circulating C-reactive protein concentration, Ureteral obst... |
ORPHA:160 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
Hereditary Methemoglobinemia |
|
Athetosis, Limb dystonia, Methemoglobinemia |
ORPHA:621 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia |
OMIM:250800 |
Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt... |
ORPHA:97214 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Micropenis, Macrocytic anemia, Neutropenia |
OMIM:620501 |
Stiff-Person Syndrome |
|
Anemia, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra... |
OMIM:260400 |
Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Hypospadias, Methemoglobinemia |
OMIM:250790 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia, Hypospadias |
ORPHA:98791 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Pierson Syndrome |
|
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic ki... |
OMIM:609049 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... |
OMIM:608643 |
Lead Poisoning |
|
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... |
ORPHA:330015 |
Sandhoff Disease |
|
Urinary incontinence, Hepatomegaly, Exaggerated startle response, Increased urinary N-acetylgluco... |
OMIM:268800 |
Juvenile Polyposis Syndrome |
|
Hepatic arteriovenous malformation, Anemia, Neoplasm of the pancreas, Hypoproteinemia, Extrahepat... |
ORPHA:2929 |
Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Exaggerated startle response |
ORPHA:309155 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis, Tremor, Exaggerated startle response |
OMIM:620327 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Decreased liver function, Exaggerated startle response, Hypernatremia, Dystonia, Thrombocytopenia... |
OMIM:620423 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia, Glomerulonephr... |
ORPHA:99867 |
Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Exaggerated startle response |
OMIM:608800 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hydronephrosis, Anemia, Abnormal hemoglobin, Hypoplasia of penis |
ORPHA:847 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced alpha/beta synthesis ratio, H... |
OMIM:301040 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Dystonia, Laryngeal dy... |
ORPHA:845 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Combined Oxidative Phosphorylation Deficiency 58 |
|
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response, Lacticaciduria |
OMIM:620451 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Gm1 Gangliosidosis Type 1 |
|
Increased urinary galactosylated oligosaccharide, Hepatosplenomegaly, Urinary glycosaminoglycan e... |
ORPHA:79255 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Exaggerated startle response |
OMIM:253800 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Asparagine Synthetase Deficiency |
|
Tremor, Hypoasparaginemia, Exaggerated startle response |
OMIM:615574 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Alkaptonuria |
|
Black pigment gallstones, Nephrolithiasis, Dark urine, Elevated urinary homogentisic acid, Aminoa... |
ORPHA:56 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Vesicoureteral reflux, Nephrolithiasis, Exaggerated startle response, Hydronephrosis, Dys... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Exag... |
OMIM:619522 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Pelvic kidney, Hydronephrosis, Micropenis, Vesicoureteral reflux |
OMIM:618653 |