Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop... |
OMIM:616689 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... |
ORPHA:232 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun... |
ORPHA:3202 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Ele... |
ORPHA:158048 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... |
ORPHA:98870 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperuricemia, Increased red blood cell coun... |
ORPHA:90041 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Multiple Myeloma |
|
Anemia, Nephrotic syndrome, Acute kidney injury, Nephropathy, Hypercalcemia, Elevated circulating... |
ORPHA:29073 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Abnormality of the liver, Hyperhomocystinemia, Hypomethioninemia, Panc... |
ORPHA:2169 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Proximal tubulopathy, Cirrhosis, Abnormality of iron homeostasis, Decreased liver... |
ORPHA:231222 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Elevated hepatic transaminase, Abnormal spleen physiology, I... |
ORPHA:398063 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Cyanosis, Transient Neonatal |
|
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Isothenuria, Reticulocytosis, Hepatosplenomegaly, Decreased mean c... |
OMIM:611590 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Elevated hepatic transaminase, ... |
ORPHA:247585 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytope... |
OMIM:603553 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Decreased transferrin saturation, Anisopoiki... |
ORPHA:300298 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... |
OMIM:613673 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Elliptocytosis 3 |
|
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... |
OMIM:617948 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... |
OMIM:609628 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, E... |
OMIM:603554 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular scler... |
OMIM:619155 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diffuse mesangial sclerosis... |
OMIM:256300 |
Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropen... |
ORPHA:811 |
Leptospirosis |
|
Acute kidney injury, Hepatitis, Jaundice, Cellular urinary casts, Thrombocytopenia, Hepatomegaly,... |
ORPHA:509 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... |
OMIM:241600 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Lymphopenia, Increased mean corpuscular volume, ... |
OMIM:127550 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Vesicoureteral reflux, Anemia, Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulat... |
OMIM:615895 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Multicystic kidney dysplasia, Increased proportion of gamma-de... |
OMIM:619774 |
Diamond-Blackfan Anemia 7 |
|
Vesicoureteral reflux, Horseshoe kidney, Macrocytic anemia, Increased mean corpuscular volume, Ne... |
OMIM:612562 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopeni... |
ORPHA:848 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Hyp... |
ORPHA:90362 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Johanson-Blizzard Syndrome |
|
Anemia, Abnormality of the pancreas, Hypoplasia of penis, Hypospadias, Hypoproteinemia, Exocrine ... |
ORPHA:2315 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia, Hepatomegaly |
ORPHA:99828 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231226 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231214 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Jaundice, Hypoproteinemia, Elevated hepatic transaminase, Tremor |
OMIM:608093 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Chédiak-Higashi Syndrome |
|
Splenomegaly, Anemia, Neutropenia, Decreased liver function, Jaundice, Elevated hepatic transamin... |
ORPHA:167 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hepatic failure, Pancreatic lymphangiectasis, Hypoproteinemia, Hepatomegaly, Hypoca... |
OMIM:235255 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytos... |
OMIM:618278 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Pancreatic lymphangiectasis, Hypoproteinemia, Micropenis, He... |
ORPHA:1655 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Jaundice, Elevated hepatic transaminase, Elevated ci... |
ORPHA:26793 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly |
ORPHA:163596 |
Pancreatic insufficiency, combined exocrine |
|
Exocrine pancreatic insufficiency, Hypoproteinemia |
OMIM:260450 |
Liver Disease, Severe Congenital |
|
Aminoaciduria, Elevated hepatic transaminase, Portal inflammation, Elevated circulating alpha-fet... |
OMIM:619991 |
Castleman Disease |
|
Anemia, Renal insufficiency, Jaundice, Ureteral obstruction, Hematuria, Decreased mean corpuscula... |
ORPHA:160 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Limb dystonia, Athetosis |
ORPHA:621 |
Eisenmenger Syndrome |
|
Hyperuricemia, Abnormality of the liver, Hypochromic microcytic anemia, Abnormal B-type natriuret... |
ORPHA:97214 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia |
OMIM:250800 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Elevated hepatic transaminase, Pancytopenia, Persistence of hemog... |
OMIM:260400 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias |
OMIM:250790 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, Microcytic anemia |
ORPHA:98791 |
Stiff-Person Syndrome |
|
Anemia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Pierson Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoproteinemia, Diffuse mesangial sclerosis,... |
OMIM:609049 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
Lead Poisoning |
|
Tubulointerstitial nephritis, Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis... |
ORPHA:330015 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Sandhoff Disease |
|
Urinary incontinence, Exaggerated startle response, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
Juvenile Polyposis Syndrome |
|
Anemia, Hepatic arteriovenous malformation, Neoplasm of the pancreas, Extrahepatic portal hyperte... |
ORPHA:2929 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Thymoma |
|
Leukemia, Glomerulonephritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell apl... |
ORPHA:99867 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Exaggerated startle response, Hepatosplenomegaly, Tremor, La... |
ORPHA:845 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin, Hypoplasia of penis, Hydronephrosis |
ORPHA:847 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Partial development of the penile shaft |
OMIM:608800 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Hypospadias, M... |
OMIM:301040 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Increased urinary galactosylated oligosaccharid... |
ORPHA:79255 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Vesicoureteral reflux, Anemia, Exaggerated startle response, Decreased serum iron, Dystonia, Neph... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urinary incontinence, Exaggerated startle response, Urethral stricture, Hypospadias, Grade III ve... |
OMIM:619522 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |