Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil... |
ORPHA:673 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Poly... |
ORPHA:71529 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal diabetes, Reactive hypoglyce... |
ORPHA:324575 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... |
OMIM:616860 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314811 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... |
OMIM:262400 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... |
ORPHA:79085 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum lepti... |
OMIM:617885 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures, Type I diabetes mellitus,... |
ORPHA:276580 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia,... |
OMIM:237800 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... |
OMIM:615238 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi... |
ORPHA:35878 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435660 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycemia, Type I diabetes mellitu... |
ORPHA:276575 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435651 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Agitation, Fasting hy... |
ORPHA:276608 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... |
OMIM:615558 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hydrocephalus, Osteoporosis, Hyperhomocystine... |
ORPHA:2169 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... |
OMIM:619868 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... |
OMIM:617021 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Agitation, Hyperinsulinemic... |
ORPHA:276556 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia |
OMIM:620195 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... |
OMIM:262700 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Decr... |
OMIM:613839 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalu... |
OMIM:269920 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentratio... |
OMIM:620010 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:96180 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Increased CSF protein concentration, Hyper... |
OMIM:267700 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Failure to thrive, Retinal dystrophy, Ataxia, Elevated circulating phytanic acid co... |
OMIM:266510 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... |
ORPHA:3319 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ... |
OMIM:224120 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Ataxia, Pigmentary retinopathy, Neonatal hyperbilirubinemia, Retinal d... |
ORPHA:3363 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Ventricular septal defect, Tetr... |
OMIM:612561 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki... |
OMIM:615631 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Decreased serum leptin |
OMIM:614962 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Stomatocytosis, Increased mean cor... |
OMIM:185000 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia,... |
ORPHA:713 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Hepatomegaly, Elevated circulating creatine kinase concentration, Osteoporosis, Fai... |
OMIM:614727 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
OMIM:603552 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, H... |
ORPHA:811 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa... |
ORPHA:14 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Joint hypermobility, Th... |
OMIM:617052 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... |
ORPHA:210110 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Increased CSF protein concentration, Pancytopenia, Hypertriglyceridemia, Ataxia, He... |
OMIM:603553 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridemia, Reduced intraabdominal ... |
ORPHA:363400 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Increased bone m... |
OMIM:259720 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Ventriculomegaly, Hepatomegaly, Failure to thrive in infancy... |
ORPHA:858 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ataxia, Ventricular septal defe... |
OMIM:249270 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Radioulnar synostosis |
ORPHA:71289 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, CSF pleocytosis, Increased CSF interferon alpha, Lo... |
OMIM:615010 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Myelomeningocele, Schistocytosis, Osteoporosis, A... |
OMIM:607330 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Ventriculomegaly, Ataxia, Increased mean platelet volume, Optic atrophy, Abnorma... |
OMIM:616737 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increa... |
OMIM:616278 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Orbital craniosynostosis, Hydrocephalus, Optic atrophy, Dandy-Walker malformation |
ORPHA:1538 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... |
ORPHA:247598 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Ventriculomegaly, Thrombocytopenia |
ORPHA:1980 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes melli... |
ORPHA:231222 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterole... |
OMIM:607765 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Flexion contracture, Increased CSF lactate, Camptodactyly, Failure to... |
OMIM:604273 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:609016 |
Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Failure to thrive, Retino... |
ORPHA:71 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Unsteady gait, Decreased CSF homovanillic acid concentration, Failure to thrive, An... |
OMIM:610090 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple... |
OMIM:259700 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... |
ORPHA:822 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:151660 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Cardiomyopath... |
ORPHA:79312 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Osteopenia, Failure to thrive, Hepatomegaly, Ataxia, Pericarditis, Peri... |
OMIM:212065 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Atrial septal defect, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, H... |
ORPHA:1667 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Failure to thrive in infancy, Giant platelets, Anemia, Lateral ventricle dilatation, ... |
OMIM:611209 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Elevated circulating creatine kinase concentration, Dandy-Walker malformation |
OMIM:607091 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomegaly, Anis... |
OMIM:618278 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Osteopor... |
OMIM:612562 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytop... |
OMIM:615085 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Chore... |
ORPHA:27 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Majeed Syndrome |
|
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... |
OMIM:609628 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Optic nerve hypoplasia, Bicuspid aortic valve, Increased circulatin... |
OMIM:618156 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Thrombocytopenia, Dilated cardiomyopathy, Colp... |
ORPHA:261250 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Hepatomegaly |
OMIM:214900 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Optic disc pallor, Increased bone mineral density, Hepatomegaly, Recurrent fract... |
OMIM:611490 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration |
OMIM:266100 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia |
OMIM:619302 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Abnormal seru... |
ORPHA:79303 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin |
ORPHA:791 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Elevated circulating creatine kinase concentration, Inability to walk, Hydroce... |
OMIM:613155 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia |
ORPHA:67046 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Ventriculomegaly, Muscular ventricular septal defect, Abnormal ... |
ORPHA:79324 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Limitation of joint mobility, Ataxia |
ORPHA:99966 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Recurrent hypoglycemia... |
ORPHA:254516 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Thrombocytopenia |
ORPHA:289916 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lym... |
OMIM:127550 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Small for gestational age, Ventricular septal defect, Increased mean platelet volum... |
OMIM:222470 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Retinal dystrophy, Ventricular septal defect, Megaloblastic anemia, Optic atro... |
ORPHA:49827 |
Oslam Syndrome |
|
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... |
OMIM:614300 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density,... |
ORPHA:848 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:3085 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
Aicardi-Goutieres Syndrome 3 |
|
CSF lymphocytic pleiocytosis, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Abnormal circulating glutamine concentrati... |
ORPHA:101028 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:608600 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... |
ORPHA:79277 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Osteoporosis, Hyperammonemia, Anemia, Cardiomyopathy, H... |
OMIM:606054 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Agitation, Fasting hypoglycemia, Glycosuria,... |
ORPHA:263455 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Failure to thrive, Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Pyruvate Carboxylase Deficiency |
|
Subependymal cysts, Increased CSF glutamate concentration, Decreased CSF glutamine concentration,... |
ORPHA:3008 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Steppage gait, Increased total iron binding capacity, Unconjugat... |
OMIM:613280 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, H... |
OMIM:251880 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased body weight, Increased total bilirubin |
ORPHA:890 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Aggressive behavior, Delayed... |
OMIM:300148 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Osteomalacia, Rickets, Hypophosp... |
OMIM:227810 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod... |
OMIM:612526 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg... |
OMIM:616050 |
Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Small for gestational age, Bicuspid aortic valve, Increased mean p... |
ORPHA:84064 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Failure to thrive, Retinopathy, Gait disturbance |
ORPHA:26 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th... |
OMIM:229050 |
Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia |
ORPHA:2849 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CS... |
OMIM:610333 |
Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:615026 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Hypertriglyceridemia, Adipose ti... |
ORPHA:528 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive |
OMIM:211600 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus, Flexion contracture, Optic atrophy |
OMIM:300884 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... |
OMIM:617872 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hydrocephalus, Hyperbilirubinemia, Decreased body weight, Atrial septal defect, Elevated circulat... |
OMIM:614886 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Neutropenia, Thromb... |
OMIM:598500 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Ventriculomegaly |
OMIM:618709 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Ventriculomegaly, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Preeclampsia |
|
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia, Small ... |
ORPHA:275555 |
Potocki-Lupski Syndrome |
|
Small for gestational age, Hypocholesterolemia, Atrial septal defect, Failure to thrive, Patent f... |
OMIM:610883 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:2924 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Overlap Myositis |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Abnormal heart morphology,... |
ORPHA:206572 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Hepatomegaly, T... |
OMIM:557000 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Broad-based gait, Optic atrophy, Hydrocephalus |
OMIM:619470 |
Alg8-Cdg |
|
Hyponatremia, Ventriculomegaly, Abnormality of subcutaneous fat tissue, Ataxia, Small for gestati... |
ORPHA:79325 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Failure to thrive |
OMIM:235555 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... |
OMIM:614736 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas... |
OMIM:246200 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ventriculomegaly, Hypoglycemia, Ataxia, Optic atrophy, Dysmetria, Athetosis, Cardiomyopathy, Rod-... |
OMIM:617710 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septa... |
OMIM:208085 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Small for gestational age, Insulin resistance, Osteoporosis, Truncal obesity, Failu... |
ORPHA:73272 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Ventriculomegaly, Increased mean platelet volume, Flexion contracture, Optic atr... |
ORPHA:487796 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to... |
OMIM:608885 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le... |
ORPHA:507 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Retinal hemorrhage, Osteolysis, O... |
ORPHA:464321 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Ventricular septal defect, Pure red cell aplas... |
ORPHA:124 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia |
OMIM:617119 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Cardiomyopathy, H... |
OMIM:251000 |
Galactokinase Deficiency |
|
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia |
ORPHA:79237 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Failure to thrive, Ataxia, Hydrocephalus, Optic atrophy, Increased CSF lactate, Choreoathetosis, ... |
OMIM:616034 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Hyperhomocystinemia, Normochromic ane... |
OMIM:614857 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
Hijazi-Reis Syndrome |
|
Gait disturbance, Hyperbilirubinemia |
OMIM:301094 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Cog4-Cdg |
|
Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... |
OMIM:616222 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Agitation, Hypoglycemia, Aggressive behavior |
OMIM:300438 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Rickets |
OMIM:619232 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Atrial septal defect, Hepatomegaly, Ventricular septal defec... |
ORPHA:290 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:608836 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
Neonatal Hemochromatosis |
|
Hypoglycemia |
ORPHA:446 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
ORPHA:158048 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Optic atrophy, Choroid plexus cyst, Perimembranous ventricul... |
OMIM:606812 |
Fried Syndrome |
|
Hydrocephalus, Abnormal optic nerve morphology, Gait disturbance |
ORPHA:85335 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Left ventricular hypertrop... |
ORPHA:31150 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Nasu-Hakola Disease |
|
Hydrocephalus, Bone cyst, Limitation of joint mobility, Reduced bone mineral density, Acute leuke... |
ORPHA:2770 |
Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Impaired gluco... |
OMIM:248370 |
Aceruloplasminemia |
|
Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Ac... |
OMIM:604290 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventriculomegaly, Ventricular septal defect, Elevated circulating cre... |
OMIM:614576 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contr... |
OMIM:617591 |
Graft Versus Host Disease |
|
Fasciitis, Dupuytren contracture, Lipodystrophy, Limited elbow movement, Limited shoulder movemen... |
ORPHA:39812 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Hydrocephalus, Flexion contracture, Optic atrophy, Dilated cardiomyopath... |
ORPHA:272 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly |
ORPHA:2123 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
1Q21.1 Microduplication Syndrome |
|
Arthrogryposis multiplex congenita, Hydrocephalus, Failure to thrive, Tetralogy of Fallot |
ORPHA:250994 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,... |
ORPHA:2298 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia |
OMIM:240200 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Sagittal craniosynostosis, Dandy-Walker malformation |
OMIM:123155 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Ataxia, Elevated circulating creatine kinase co... |
OMIM:610377 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Leu... |
ORPHA:381 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydroce... |
OMIM:613153 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... |
OMIM:613845 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Osteoporosis, Hypertrophic cardiomyopathy... |
ORPHA:369 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Anorexia, Hypoglycemia |
OMIM:619386 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Failure to thrive, Ventricular septal defect, Tricuspid stenosis, Congenital h... |
OMIM:105650 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia |
ORPHA:177910 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Small for gestational age, Hyperammonemia, Elevated circu... |
OMIM:615160 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thromboc... |
OMIM:617475 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Optic atrophy, Pigmentary ... |
OMIM:222300 |
Castleman Disease |
|
Myelofibrosis, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decrea... |
ORPHA:160 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Glycosuria, Arthrogryposi... |
OMIM:613404 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy... |
ORPHA:99901 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a... |
OMIM:194350 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Abnormal cerebrospinal fluid morphology, Retinal pigment ... |
ORPHA:448237 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
OMIM:606407 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Hyperglycemia, ... |
OMIM:520000 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Failure to thrive, Hypoglycemia, Macular coloboma, Ata... |
ORPHA:79282 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Small for gestational age, Elevated circulating creatine kinase concentration, Ventr... |
OMIM:618775 |
Muscle-Eye-Brain Disease |
|
Elevated circulating creatine kinase concentration, Hydrocephalus, Meningocele, Optic atrophy, Ga... |
ORPHA:588 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia |
ORPHA:48431 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia,... |
ORPHA:168577 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:232400 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ventriculomegaly |
OMIM:618624 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, B ... |
OMIM:618048 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Ventriculomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemi... |
ORPHA:348 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... |
OMIM:201400 |
Schaaf-Yang Syndrome |
|
Impulsivity, Flexion contracture, Hypogonadism, Skin-picking, Camptodactyly, Arthrogryposis multi... |
OMIM:615547 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular s... |
OMIM:608104 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Recurrent hypoglycemia, Elevated circulating thyroid-stim... |
ORPHA:94086 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Cherry red spo... |
ORPHA:355 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventriculomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomega... |
OMIM:615630 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... |
OMIM:269700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Cystic Echinococcosis |
|
Hepatomegaly, Eosinophilia, Bone cyst, Weight loss, Abnormal heart morphology, Hyperbilirubinemia... |
ORPHA:400 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Abnormality of neutrophils, Thrombocytopenia, Arthritis, Cellulitis, Abnormal ... |
ORPHA:229717 |
Dk Phocomelia Syndrome |
|
Encephalocele, Thrombocytopenia |
OMIM:223340 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Congenital Enterovirus Infection |
|
Ventriculomegaly, Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis... |
ORPHA:292 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Thrombocytopenia, CSF lymphocytic pleiocytosis |
OMIM:612952 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... |
ORPHA:79086 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Left ventricular hypertro... |
ORPHA:90065 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss |
ORPHA:69077 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Hydrocephalus, Elevated circulating creatine kinase c... |
OMIM:615181 |
Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Abnormal heart morphology, Colpocephaly, Macular hypoplasia, Ventri... |
ORPHA:2185 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Ventricular septal defect, Conjugated... |
OMIM:614866 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hernia, Hyperbilirubinemia, Hiatus hernia |
ORPHA:101009 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Pyridoxine-Dependent Epilepsy |
|
Restlessness, Hypoglycemia |
ORPHA:3006 |
Krabbe Disease |
|
Autoimmune thrombocytopenia, Hydrocephalus, Optic atrophy, Failure to thrive, Increased CSF prote... |
OMIM:245200 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Radial club hand, Hydrocephalus, Hyperkalemia, Anemia, Leukopenia, De... |
OMIM:617053 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:300942 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Craniosynostosis, Hydrocephalus, Abnormal heart morphology, Camptodactyly of toe... |
OMIM:175700 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, C... |
ORPHA:540 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Hypoglycemia, Dysphagia |
OMIM:618958 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Dextrocardia, Mega... |
OMIM:277380 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypoglycemia |
ORPHA:163693 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Limitation of joint mobility, Leukopenia, Thrombocy... |
ORPHA:108 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Hypoglycemia, Neonatal hypoglycemia |
ORPHA:231140 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Inability to walk, Flexion contracture, Optic atrophy, Enlarged kidne... |
OMIM:617303 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive, Hepatomegaly |
OMIM:601847 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ventriculomegaly, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive h... |
OMIM:304790 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Myocardial fibrosis, Thrombocytopenia, Hepatospleno... |
ORPHA:210136 |
Laron Syndrome |
|
Abnormality of the endocrine system, Hypercholesterolemia, Hypoglycemia, Delayed puberty |
ORPHA:633 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Dila... |
OMIM:618120 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... |
ORPHA:98850 |
Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Thrombocytopenia |
ORPHA:141184 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... |
OMIM:618528 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
B4Galt1-Cdg |
|
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Sple... |
ORPHA:79332 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Cellulitis, Limitation of joint mobility, Osteolysis, S... |
ORPHA:47612 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Ventricular septal defect, Hydrocephalus, Hernia, Leukemia, Ventriculomegaly |
OMIM:602501 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Retinal dysplasia, Ventriculomegaly |
OMIM:614830 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventriculomegaly, Small for gestational age, Optic nerve hypoplasia, Elevated circu... |
OMIM:301056 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, D... |
OMIM:613327 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Hydrocephalus, Optic atrophy, Ataxia |
OMIM:618174 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia |
OMIM:614741 |
Kleeblattschaedel |
|
Hydrocephalus, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Ventricular septal defect, Hydrocephalus, Anemia, Hypoca... |
ORPHA:163979 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Failure to thrive |
OMIM:613812 |
Masa Syndrome |
|
Hydrocephalus, Shuffling gait, Ventriculomegaly |
OMIM:303350 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia |
ORPHA:231147 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Inability to walk by childhood/adolescence, Flexion contracture, Optic atrophy, St... |
ORPHA:99947 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Inguinal hernia, Hypoglycemia, Thin bony cortex, Small fo... |
OMIM:613658 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, S... |
OMIM:131100 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Neutropenia, Weight loss, Anemia, Arthritis, Hypocalcemia, Cellulitis, Failure to ... |
ORPHA:47 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Small for gestational age, Optic atrophy, Hyperammonemia, Increased CSF lactate, Ne... |
OMIM:618253 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... |
OMIM:616113 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... |
OMIM:618886 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... |
OMIM:619644 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... |
OMIM:231095 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251110 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
Sengers Syndrome |
|
Osteopenia, Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyper... |
OMIM:614702 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Immunodeficiency 46 |
|
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Hypoglycemia, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammone... |
OMIM:617093 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Abnormal heart morphology, Abnormal glucos... |
ORPHA:391673 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia |
ORPHA:230 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulati... |
ORPHA:470 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... |
OMIM:616738 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration |
OMIM:243300 |
Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Thrombocytopenia |
ORPHA:3327 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Hydrocephalus, Optic atrophy, An... |
OMIM:612301 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Microcytic anemia, H... |
ORPHA:168569 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ventriculomegaly, Ataxia, Thrombocytopenia, Dysmetria, Athetosis, Later... |
ORPHA:572798 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Hydrocephalus, Dilat... |
ORPHA:398124 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... |
ORPHA:199296 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia |
OMIM:620184 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyp... |
ORPHA:71212 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Flexion cont... |
OMIM:613154 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Retinopathy, Thrombocytopenia |
ORPHA:158029 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:246900 |
Classic Galactosemia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Attention deficit hyperactivity disor... |
ORPHA:79239 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:619662 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... |
ORPHA:3240 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemoph... |
OMIM:301078 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Ataxia, Cachexia, Splenomegaly, Insulin resistance, Hyd... |
ORPHA:3452 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, Optic atrophy |
ORPHA:1528 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Camptodactyly |
OMIM:619751 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Joint stiffness, Inability to walk, Hydrocephalus, Flexion c... |
ORPHA:505248 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... |
ORPHA:77259 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... |
ORPHA:3226 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus, Ataxia |
ORPHA:1532 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Eisenmenger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating C-reactive protein concentration, H... |
ORPHA:97214 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... |
ORPHA:525731 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hepatomegaly, Failure to thrive, Hyperbilirubinemia |
OMIM:214950 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
Propionic Acidemia |
|
Hypoglycemia |
ORPHA:35 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... |
ORPHA:167 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Ventriculomegaly |
ORPHA:324416 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Increased body weight, Weight loss, Anemia, Arthritis, Difficulty wal... |
ORPHA:905 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Ataxia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Pathologic frac... |
OMIM:230800 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Hypoglycemia, Dysphagia, Paroxysmal bursts of laughter |
ORPHA:391428 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:26792 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Abnormal temper tantrums |
ORPHA:171829 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hydrocephalus, Hyperhomocystinem... |
OMIM:277400 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Diarrhea 13 |
|
Recurrent hypoglycemia |
OMIM:620357 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, ... |
ORPHA:77293 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosi... |
ORPHA:824 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Ataxia, Hydrocephalus, Craniofacial osteosclerosis, Optic atrophy, Increased sk... |
OMIM:618476 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia |
OMIM:619048 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia |
ORPHA:163596 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, El... |
ORPHA:370959 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... |
OMIM:235200 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Hydrocephalus, Choreoathetosis, Lateral ventricle dilatation, Elevate... |
OMIM:231670 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Stt3B-Cdg |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Large for gestational age, Thrombocytopenia, Umbilical hernia, Ventriculomegaly |
OMIM:616638 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Optic atrophy, Thrombocytopenia |
OMIM:615597 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... |
ORPHA:226313 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Diencephalic Syndrome |
|
Hydrocephalus, Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Delayed puberty, Hypothyroidism |
ORPHA:391408 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Hardikar Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypersplenism, Splenomegaly, Partial anomalous pulmonary... |
OMIM:301068 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia |
ORPHA:289504 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, H... |
OMIM:619743 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Atria... |
OMIM:619991 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of... |
OMIM:614171 |
Timothy Syndrome |
|
Hypothyroidism, Hypothermia, Hypoglycemia |
OMIM:601005 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Hypothermia |
OMIM:245400 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Small for gestational ag... |
OMIM:260400 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Hydrocephalus, Reduced bone mineral density, Weight loss, Hypokalemia, Incre... |
OMIM:619377 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Elevated circulating creatine kinase concentration, Hydrocepha... |
OMIM:253800 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Cyanosis, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Failure to thrive, Thrombocytopenia |
OMIM:616577 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251100 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Leukopenia, Arthritis, Thrombocytopenia |
OMIM:152700 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin co... |
OMIM:222700 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog... |
ORPHA:85212 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:203800 |
Alexander Disease |
|
Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria |
OMIM:203450 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Thrombocytopenia, Splenomegaly, ... |
OMIM:214500 |
Distal Xq28 Microduplication Syndrome |
|
Tip-toe gait, Patent foramen ovale, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Hydrocephalus, Chorioretinal atrophy, Truncal ataxia, Aortic valve sten... |
OMIM:220220 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia |
OMIM:620085 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia |
OMIM:619151 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Ataxia, Mitral valve calcification, A... |
ORPHA:77261 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Ventricular septal defect, Hypocholesterolemia, Atrial septal defect, Failure ... |
OMIM:244450 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo... |
ORPHA:398079 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Abnormality of neutrophils, Hydrocephalus, Ocular albinism, Reduced bone mineral density,... |
ORPHA:2720 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Thrombocytopenia |
OMIM:274240 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia |
OMIM:620137 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Flexion contracture, Elevated circulating creatine kinase concentration, Retinal d... |
OMIM:615249 |
Ogden Syndrome |
|
Inguinal hernia, Ventriculomegaly, Bicuspid aortic valve, Left atrial enlargement, Maternal diabe... |
OMIM:300855 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hydrocephalus, ... |
OMIM:620157 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, A... |
ORPHA:95496 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Delayed vertebral ossification, Small for gestational age, Hydrocephalus, Flexion contracture, Ga... |
OMIM:613330 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Hydrocephalus, Craniosynostosis |
ORPHA:1516 |
Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia, Hepatomegaly |
ORPHA:99828 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Coach Syndrome 2 |
|
Hydrocephalus, Elevated circulating creatinine concentration, Chorioretinal coloboma |
OMIM:619111 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Hydrocephalus, Abnorm... |
ORPHA:2635 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Ataxia, Hydrocephalus, Optic atrophy, Dys... |
ORPHA:93400 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Impulsivity, Precocious puberty, F... |
ORPHA:398069 |
Pearson Syndrome |
|
Hypocalcemia, Neutropenia, Reticulocytosis, Hepatomegaly, Ataxia, Cardiomyopathy, Hypokalemia, Hy... |
ORPHA:699 |
Vexas Syndrome |
|
Arthritis, Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytop... |
OMIM:301054 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Hyperchole... |
ORPHA:90674 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Inguinal hernia, Hypothyroidism, Attention deficit hyperactivity disorder, Hypoglycemia |
ORPHA:397590 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Caroli Syndrome |
|
Hepatomegaly, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbiliru... |
ORPHA:480520 |
Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Ventricular septal defect, Splenomegaly, H... |
OMIM:606003 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Joint stiffness, Cardiomegaly, Splenomegaly, Elevated transferri... |
ORPHA:465508 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Thrombocytopenia, Flexion contracture, Increased CSF lactate, Choreoathetosis, Leukopenia... |
OMIM:616271 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
Walker-Warburg Syndrome |
|
Retinal detachment, Ventriculomegaly, Retinal dystrophy, Chorioretinal dysplasia, Hydrocephalus, ... |
ORPHA:899 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Joint laxity, Hydrocephalus |
OMIM:236660 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism |
OMIM:617575 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Rod-cone dystrophy, Ventriculomegaly, Thrombocytopenia |
ORPHA:96181 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
ORPHA:234 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Splenomegaly, Hydrocephalus,... |
ORPHA:2969 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:603909 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion... |
ORPHA:90791 |
Dubowitz Syndrome |
|
Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia, Hypocholesterolemia, Rod-cone dys... |
OMIM:223370 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Cyanosis, Decreased response to growth hormone stimulation test, Central diabetes ins... |
ORPHA:293987 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Decreased circu... |
ORPHA:199299 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Ventriculomegaly, Increased CSF lactate, Anemia, Elevated hepatic iron concentration, Thrombocyto... |
OMIM:614946 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Ataxia, Osteoporosis, Leukopenia, Exudative retinopathy, Thrombocy... |
OMIM:613990 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, ... |
ORPHA:2785 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Patent foramen ovale, Umbilical hernia, Failure to ... |
OMIM:251290 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia |
ORPHA:231137 |
Hemochromatosis, Neonatal |
|
Hypoglycemia |
OMIM:231100 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Dextrocardia, Conjugated hyperbilirubinemia, Aqueductal ste... |
OMIM:620305 |
Immunodeficiency 22 |
|
Pericarditis, Retinal vasculitis, Anemia, Panniculitis, Decreased proportion of CD4-positive help... |
OMIM:615758 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... |
ORPHA:90673 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hypoglycemia, Transient hyperlipidemia |
ORPHA:156 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
Degcags Syndrome |
|
Osteopenia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent foramen ovale, Hepat... |
OMIM:619488 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia, Failure to thrive |
OMIM:619484 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
ORPHA:352682 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:605479 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipide... |
ORPHA:567983 |
Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Self-injurio... |
ORPHA:72 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia |
OMIM:261750 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Ventriculomegaly, Ataxia, Anemia, Failure to thrive, Thrombocytopenia |
ORPHA:3322 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Osteolysis, Corneal scarring, Atypical ... |
OMIM:263700 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Inability to walk, Splenomegaly, Increased CSF interferon alpha, Chronic CSF lympho... |
OMIM:225750 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Retinal telangiectasia, Optic atrophy, Osteoporosis, Increased susceptibility... |
OMIM:612199 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Craniosynostosis, Congenital diaphragmatic hernia |
ORPHA:380 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Ataxia, Hydrocephalus, Optic atrophy, Colpocephaly, Distal arthrogryposis, Fa... |
OMIM:619833 |
Autoimmune Hepatitis |
|
Splenomegaly, Arthritis, Increased total bilirubin |
ORPHA:2137 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia |
OMIM:266150 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Ventriculomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia,... |
OMIM:608013 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Osteopenia, Pancytopenia, Small for gestational age, Abnormal T cell morphology, A... |
OMIM:242900 |
Farber Disease |
|
Flexion contracture, Osteoporosis, Hepatosplenomegaly, Anemia, Macular degeneration, Arthritis, C... |
ORPHA:333 |
Tenorio Syndrome |
|
Osteopenia, Joint laxity, Hypoglycemia, Hydrocephalus, Gait disturbance, Hypoinsulinemia, Ventric... |
OMIM:616260 |
Secondary Short Bowel Syndrome |
|
Steatorrhea, Polyphagia, Primary hypothyroidism, Central hypothyroidism |
ORPHA:95427 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Aqueductal stenosis, Secundum atrial septal defect, Pr... |
OMIM:619534 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperu... |
OMIM:232220 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal hypoplasia, Anorexia, P... |
ORPHA:95409 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro... |
OMIM:616084 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Ventriculomegal... |
OMIM:619355 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Myocarditis, Elevat... |
ORPHA:36234 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Camptodactyly, Enamel hypoplasia, Thrombocytopenia |
OMIM:619980 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia |
OMIM:248360 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Myocarditis, Leukocytosis, Abnormal blo... |
ORPHA:810 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Decreased proport... |
ORPHA:1830 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... |
ORPHA:90790 |
Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Pe... |
ORPHA:2905 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Ataxia, Hydrocephalus, Optic atrophy, Hyperhomocystinemia, Cystathioninemia, G... |
ORPHA:395 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventriculomegaly, Hypertriglyceridemia, Hypoglycemia, Macular atr... |
OMIM:619418 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia |
ORPHA:69665 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Hypoglycemia |
ORPHA:42 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Caroli Disease |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abnormal ci... |
ORPHA:53035 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Impaired glucos... |
OMIM:256040 |
Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Aplastic anemia, Ventricular septal defect, Thrombocytopenia, Hydrocephalu... |
OMIM:300514 |
Fibular Hemimelia |
|
Joint laxity, Decreased hip abduction, Craniosynostosis, Spina bifida, Joint stiffness, Limitatio... |
ORPHA:93323 |
Man1B1-Cdg |
|
Polyphagia |
ORPHA:397941 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
Vitamin K Antagonist Embryofetopathy |
|
Epiphyseal stippling, Myelomeningocele, Optic atrophy, Hydrocephalus |
ORPHA:1914 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Hydrocephalus, Gait disturbance, Joint hyperflexibility |
ORPHA:2181 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Leukopenia, Neutropenia, Fai... |
OMIM:613989 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Obesity |
OMIM:601794 |
Pettigrew Syndrome |
|
Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Flexion contracture, Optic atrophy, Gait at... |
OMIM:304340 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal cal... |
ORPHA:85138 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
OMIM:615191 |
Gracile Bone Dysplasia |
|
Failure to thrive, Asplenia, Hydrocephalus, Hypocalcemia, Hypoplastic spleen, Decreased skull oss... |
OMIM:602361 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, Thrombocytop... |
OMIM:614520 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... |
ORPHA:508 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia |
OMIM:614739 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Hypoglycemia |
ORPHA:2394 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Acalvaria |
|
Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Hydrocephalus, Obesity, Radioulnar synostosis, Umbilical hernia |
ORPHA:171839 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Jo... |
OMIM:300972 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology, Scarring |
ORPHA:398189 |
Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphology, Splenom... |
ORPHA:667 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Ventriculomegaly, Ataxia, Splenomegaly, Hydrocephalus, Increased CSF protein concen... |
OMIM:272200 |
Alexander Disease Type I |
|
Hydrocephalus, Failure to thrive, Ataxia, Cachexia |
ORPHA:363717 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia |
OMIM:243500 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... |
OMIM:615577 |
Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Hypoglycemia, Ventriculomegaly, Gait ataxia |
OMIM:616355 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus |
OMIM:258320 |
Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Ataxia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thr... |
ORPHA:134 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Epiphyseal stippling, Colpo... |
OMIM:270400 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Increased circulating very long-chain fatty acid con... |
OMIM:614887 |
Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Xanthelasma... |
ORPHA:30391 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Broad-based gait, Failure to thrive, Ataxia, Osteomyelitis, Bicuspid aortic valve, ... |
OMIM:619475 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Myocarditis, Retinal arterial occlusion, Arthritis, Coombs-posit... |
ORPHA:464343 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Umbilical hernia, Inguinal hernia, Hypoglycemia, Elbow contracture |
OMIM:620275 |
Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Flexion contracture, Reduced bone mineral density, Loss of ambulation, Retinal dege... |
ORPHA:581 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukopenia, Hepatomeg... |
ORPHA:1304 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, S... |
ORPHA:90051 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Neonatal hypoglycemia, Camptodactyly |
OMIM:301032 |
Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Joint stiffness, Splenomegaly, Hydrocephalus, Flexion contracture,... |
OMIM:607014 |
3C Syndrome |
|
Inguinal hernia, Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morphology, H... |
ORPHA:7 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Agitation, Neonatal hypoglycemia |
OMIM:619046 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Lymphopenia |
OMIM:613471 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Ventriculomegaly |
ORPHA:95232 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration |
OMIM:223360 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger... |
OMIM:612394 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Hypothermia, Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Neural Tube Defects, Susceptibility To |
|
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta |
OMIM:182940 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Hyperinsulinemia, Dysmetria, Supravalvar pulmonary steno... |
OMIM:620185 |
Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Acute lymphoblastic leukemia, Type II diabetes mellitus,... |
OMIM:606593 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Recurrent hypoglycemia, Hypothyroidism, Delayed puberty |
OMIM:616817 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Fasting hypoglycemia, Glycos... |
ORPHA:2088 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Joi... |
OMIM:609069 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia, Fasti... |
OMIM:232200 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:170100 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Hepatomegaly, Inguinal hernia, Craniosynostosis, Splenomegaly, Hyperbilirubinemia, ... |
OMIM:613610 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Chorioretinal coloboma |
ORPHA:163961 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt... |
OMIM:614643 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Secundum atrial septal defect, Thrombocytopenia, Lateral ventricle dilatation, Vent... |
OMIM:617397 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Unilambdoid synostosis, Ventriculomegaly |
OMIM:618577 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Inguinal hernia, Failure to thrive, Cor triatriatum, Intermittent thrombocytopenia,... |
OMIM:612541 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Limitation of joint mobility, Joint hyperflexibility, Holoprosencep... |
ORPHA:93274 |
Desmosterolosis |
|
Ventriculomegaly, Failure to thrive, Generalized osteosclerosis, Hydrocephalus, Abnormal circulat... |
OMIM:602398 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Abnormal atrial arrangement, Asplenia, Situs inversus totalis, Hydrocepha... |
ORPHA:244 |
Rett Syndrome |
|
Stereotypical hand wringing, Agitation, Abnormal repetitive mannerisms, Increased serum leptin |
ORPHA:778 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypoglycemia, Glycosuria |
OMIM:616026 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia |
ORPHA:261102 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, ... |
OMIM:229600 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal t... |
OMIM:620155 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Hepatomegaly, Abnormal heart v... |
OMIM:309900 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Obesity, Mitral valve prolapse |
ORPHA:2183 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Pancreatic hyperp... |
ORPHA:99829 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:619463 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri... |
ORPHA:447788 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Hogue-Janssen Syndrome 2 |
|
Ventriculomegaly, Inability to walk, Hydrocephalus, Gait ataxia, Joint hypermobility |
OMIM:616362 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Inability to walk, High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Radial dysplasia, Anemia |
OMIM:617244 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Abnormal dental enamel morphology, Delayed puberty |
ORPHA:251004 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... |
ORPHA:186 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnormal circulating leptin concentration, ... |
ORPHA:79474 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Achilles tendon contracture, Osteoporosis, Normal pressure hydroc... |
OMIM:620351 |
Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Inguinal hernia, Broad-based gait, Progressive flexion co... |
ORPHA:93932 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Anemia, Hepatosplenomegaly |
ORPHA:84081 |
Adams-Oliver Syndrome |
|
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Tetralogy of Fallot, Leukopeni... |
ORPHA:974 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia |
OMIM:616483 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Optic nerve hypop... |
OMIM:236670 |
Holoprosencephaly |
|
Hyponatremia, Omphalocele, Encephalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in i... |
ORPHA:2162 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Joint stiffness, Splenomegaly, Hydrocephalus, ... |
ORPHA:585 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Hydrocephalus, Flexion ... |
OMIM:210710 |
Jacobsen Syndrome |
|
Ventricular septal defect, Hydrocephalus, Flexion contracture, Optic atrophy, Macular hypoplasia,... |
OMIM:147791 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Retinal dystrophy, Elevated circulating creatine kinase concentration, Ventriculom... |
OMIM:616538 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Osteopenia, Recurrent fractures, Hydrocephalus, Reduced bone mineral... |
OMIM:112240 |
Optic Pathway Glioma |
|
Papilledema, Hydrocephalus, Optic atrophy |
ORPHA:2086 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Ventricular septal defect, Hydrocephalus, Pigmentary retinopathy, Atrial septal def... |
OMIM:612582 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Aggressive behavior, Abnormal temper tantrums, Contracture of the proximal interpha... |
ORPHA:457279 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopeni... |
ORPHA:169090 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hernia |
ORPHA:251046 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Craniosynostosis |
OMIM:612247 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Hydrocephalus, Gait disturbance, Failure to thrive, Ventriculomegaly |
OMIM:609757 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Obesity |
ORPHA:141333 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age |
OMIM:618302 |
Crouzon Syndrome |
|
Hydrocephalus, Optic atrophy, Multiple suture craniosynostosis |
ORPHA:207 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Double outlet right ventricle, Neutropenia, Mitral stenosis, Tetralogy... |
ORPHA:163956 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Thanatophoric Dysplasia |
|
Joint stiffness, Hydrocephalus, Joint hyperflexibility, Atrial septal defect, Ventriculomegaly |
ORPHA:2655 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... |
OMIM:608233 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Emanuel Syndrome |
|
Inguinal hernia, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, Congenital diap... |
OMIM:609029 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures, Dysphagia |
ORPHA:480864 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, Failure to thrive, Thrombocytopenia |
OMIM:617941 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Retinal dystrophy, Ataxia, Dextrocardia, Hydrocephalus, Gait disturbance, Retinal ... |
ORPHA:220493 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia... |
ORPHA:79259 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Hypoplastic left heart, ... |
OMIM:220210 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia |
ORPHA:90045 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytop... |
ORPHA:79124 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, ... |
ORPHA:464329 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
D-Glyceric Aciduria |
|
Tongue thrusting, Hypoglycemia |
OMIM:220120 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital th... |
OMIM:605432 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis |
OMIM:615599 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypoglycemia, Premature thelarche, Oral-pharyngeal dysphagia, Hypothyroidism, Premature pubarche |
OMIM:616878 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial se... |
OMIM:306955 |
Wagro Syndrome |
|
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior |
OMIM:612469 |
Carnitine Deficiency, Systemic Primary |
|
Impaired gluconeogenesis, Recurrent hypoglycemia |
OMIM:212140 |
Triploidy |
|
Omphalocele, Hepatomegaly, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holopr... |
ORPHA:3376 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Abnormal heart morphology, Anemia, Ne... |
OMIM:600901 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Hydrocephalus, Abnormal cardiac ventricle morphology, Con... |
ORPHA:2306 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Atrial septal defect, Hy... |
OMIM:610733 |
Joubert Syndrome 14 |
|
Encephalocele, Ataxia, Ventricular septal defect, Morning glory anomaly, Hydrocephalus, Meningoce... |
OMIM:614424 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B ly... |
ORPHA:508542 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Retinal degeneration |
OMIM:208500 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Splenomegaly, Hypertrophic cardiomyo... |
ORPHA:309854 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Patent foramen ovale, Neutr... |
ORPHA:391487 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Ventricular septal defect, Flexion contracture, Reticulo... |
OMIM:227645 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... |
ORPHA:79330 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Inguinal hernia, Hepatomegaly, Ataxia, Splenomegaly, Hydrocephalus, Opti... |
ORPHA:1454 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor... |
OMIM:615219 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
OMIM:180860 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Inguinal hernia, Bicuspid aortic valve, Recurrent fractures, Congenital diaphragmatic... |
OMIM:245600 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Congenital diaphragmatic hernia, Craniosynostosis, Hydrocephalus, Os... |
ORPHA:2409 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Neonatal hypoglycemia |
OMIM:212138 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Abnormal heart morphology, Anemia, Ne... |
OMIM:227650 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ventriculomegaly, Ataxia, Limb joint contracture, Splenomegaly, Flexion contracture... |
OMIM:301072 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hypoglycemia |
OMIM:246450 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia |
OMIM:201450 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior |
ORPHA:251028 |
Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Hydrocephalus, O... |
ORPHA:579 |
Cog8-Cdg |
|
Hypoglycemia |
ORPHA:95428 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis, Increased body weight, Increased circulating cortisol level, Abdominal obesity, Hyp... |
OMIM:615954 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentratio... |
OMIM:276700 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Lymphopenia, Thro... |
ORPHA:93552 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
Rift Valley Fever |
|
Retinitis, CSF pleocytosis, Retinal hemorrhage, Macular edema, Anemia, Retinal vasculitis, Thromb... |
ORPHA:319251 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
Central Precocious Puberty In Male |
|
Hydrocephalus |
ORPHA:649929 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Cellulitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia |
ORPHA:2686 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Hydrocephalus... |
OMIM:231005 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Ventriculomegaly, Hypoammonemia, Chorioretinal dysplasia, Abnormal... |
ORPHA:534 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Joint contracture, Hypothyroidism, Hypoglycemia |
OMIM:618005 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus |
ORPHA:73256 |
Maple Syrup Urine Disease |
|
Hypoglycemia |
OMIM:248600 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Bicoronal synostosis, Camptodactyly of finger, Secundum atrial septal defect, Hydrocephalus, Leuk... |
OMIM:619951 |
Emanuel Syndrome |
|
Inguinal hernia, Multiple joint contractures, Ventriculomegaly, Truncus arteriosus, Congenital di... |
ORPHA:96170 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Broad-based gait, Ventriculomegaly, Mitral valve calcification, Cachex... |
ORPHA:2072 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive, Joint stiffness |
ORPHA:1895 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus, Optic atrophy |
ORPHA:93262 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Diabetes mellitus, Lipoatrophy, Neonatal alloimmune thrombocytopenia... |
ORPHA:51 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Pericardial effusion, Splenomegaly, Increased circu... |
OMIM:615846 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Optic atrophy, Lateral ventricle dilatation |
OMIM:614219 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Osteoporosis, Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia |
ORPHA:169105 |
Lujo Hemorrhagic Fever |
|
Stiff neck, Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Leu... |
ORPHA:319213 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Dysphagia |
ORPHA:26791 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Optic atrophy, Joint hyperflexibility, Failure to thrive, Ventriculomegaly |
ORPHA:60040 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Hypothermia |
OMIM:618329 |
Q Fever |
|
Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pericardial effusion,... |
ORPHA:781 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:308230 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Pericarditis, Hypoglycemia, Elevated circulating creatine kinase co... |
ORPHA:99826 |
Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Loss of ambulation, Decreased skull ossification... |
ORPHA:666 |
Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
OMIM:614921 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Hyperextensibility of the fin... |
OMIM:616914 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... |
ORPHA:90794 |
Icf Syndrome |
|
Communicating hydrocephalus, Abnormality of neutrophils, Umbilical hernia, Lymphopenia, Anemia |
ORPHA:2268 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Abnormal dental enamel morphology, ... |
ORPHA:567 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Tick-Borne Encephalitis |
|
Stiff neck, Elevated circulating C-reactive protein concentration, CSF pleocytosis, Leukocytosis,... |
ORPHA:297 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynost... |
OMIM:616294 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Sagittal craniosynostosis, Hydrocephalus, Camptodactyly, Atrial septal defect, A... |
ORPHA:459061 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
Nephronophthisis 18 |
|
Hydrocephalus, Retinitis |
OMIM:615862 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Hydr... |
OMIM:619321 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
Desmosterolosis |
|
Increased bone mineral density, Splenomegaly, Hydrocephalus, Anomalous pulmonary venous return, O... |
ORPHA:35107 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of finger, Splenomegaly, Hydrocephal... |
ORPHA:93473 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Retinal degeneration, Papillede... |
ORPHA:580 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Inguinal hernia, Hydrocephalus, Failure to thrive, Joint hypermobility |
OMIM:612940 |
Weaver Syndrome |
|
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia |
OMIM:277590 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Erythroid hypoplasia, Obesity, Anemia, Thrombocytopenia |
OMIM:620072 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ataxia, Retinal hemorrhage, Athetosis, Fasting hypoglycemia, Subepen... |
ORPHA:25 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
Pelvis-Shoulder Dysplasia |
|
Waddling gait, Camptodactyly of finger, Spina bifida, Hydrocephalus, Retinal coloboma, Hydranence... |
ORPHA:2839 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
Lathosterolosis |
|
Hepatomegaly, Meningocele, Anisopoikilocytosis, Abnormal platelet morphology, Failure to thrive, ... |
ORPHA:46059 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Ret... |
OMIM:603903 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Ketotic hypoglycemia, Recurrent hypoglycemia, Fasting hypoglycemia, Hyperch... |
ORPHA:79240 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Hydrocephalus, Neonatal epiphyseal stippling, Optic atrophy, Epiphysea... |
OMIM:101800 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Hypoglycemia, Thyroid carcinoma, Lipoma, Hashimoto thyroiditis |
ORPHA:109 |
Adnp Syndrome |
|
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Compulsive behaviors, Abnormal t... |
ORPHA:404448 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Anemia, Camptodactyly, Atrial septal defect, Thrombocytopenia |
ORPHA:261323 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Akinesia, Hydrocephalus, Hydranencephaly, Joint contracture, Dandy-Walker malfo... |
OMIM:225790 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Neonatal hypoglycemia |
ORPHA:457485 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia |
OMIM:210200 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
Distal Triplication 15Q |
|
Craniosynostosis, Large for gestational age, Hydrocephalus, Flexion contracture, Abnormal heart m... |
ORPHA:314588 |
Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:616433 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormal heart morphology |
OMIM:276950 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Flexion contracture, Hypoglycemia, Decreased response to growth ho... |
OMIM:616007 |
Recon Progeroid Syndrome |
|
Joint laxity, Thrombocytopenia, Anemia |
OMIM:620370 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Hydrocephalus, Reticulocytopenia, Abnormal heart morphol... |
OMIM:227646 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Dyskeratosis Congenita |
|
Hepatomegaly, Diabetes mellitus, Recurrent fractures, Abnormality of neutrophils, Thrombocytopeni... |
ORPHA:1775 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Abnormal retinal morphology, Secundum atrial septal defect, Hydro... |
ORPHA:1600 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Myocar... |
ORPHA:50918 |
Ivic Syndrome |
|
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R... |
OMIM:147750 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Atrial septal defect, Ventric... |
OMIM:603387 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Hepatomegaly, Retinal atrophy, Ataxia, Sple... |
OMIM:216400 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Ataxia, Retinal dystrophy, Hydrocephalus, Chorioretinal coloboma |
ORPHA:2318 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hypothermia, Hypoketotic hypoglycemia |
ORPHA:26793 |
Dilated Cardiomyopathy With Ataxia |
|
Repetitive compulsive behavior, Hypothyroidism, Neonatal hypoglycemia |
ORPHA:66634 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Eosinophilia, Abnormal retinal morphology, Abnormality of the spleen... |
ORPHA:228123 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia |
OMIM:229700 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Optic disc coloboma, Unconjugated hyperbilirubinemia, Atrial septal defect... |
OMIM:620186 |
Sturge-Weber Syndrome |
|
Retinal detachment, Abnormal retinal vascular morphology, Hydrocephalus, Optic atrophy, Hyperosto... |
ORPHA:3205 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Pathologic fracture, Thrombocytopenia |
OMIM:112200 |
Peho Syndrome |
|
Hydrocephalus, Flexion contracture, Optic atrophy, Limitation of joint mobility, Arthrogryposis m... |
ORPHA:2836 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Hydrocephalu... |
OMIM:130720 |
Pentalogy Of Cantrell |
|
Omphalocele, Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenita... |
ORPHA:1335 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Osteopenia, Inguinal hernia, Recurrent fractures, Subperiosteal bone... |
OMIM:618188 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Splenomegaly, Hydrocephalus, Optic nerve dys... |
OMIM:115150 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Recurrent hypoglycemia, Hypothermia, Anorexia |
ORPHA:20 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Optic disc pallor, Pancytopenia, Osteopenia, Ataxia, Joint laxity, C... |
ORPHA:309282 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Aggressive behavior, Precocious puberty, Umbilical hernia, Abnormal repetitive mann... |
OMIM:301066 |
L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Gait disturbance |
ORPHA:275543 |
Fanconi Anemia, Complementation Group F |
|
Anemia, Leukopenia, Atrial septal defect, Failure to thrive, Thrombocytopenia |
OMIM:603467 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoglycemia |
OMIM:607143 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Hypoglycemia, Hypothermia, Aggressive behavior |
ORPHA:17 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Retinal dystrophy, Hydrocephalus, Optic ... |
OMIM:608091 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glycosuria |
OMIM:231680 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Hydrocephalus, Umbilical hernia, Hypertrophic cardiomyopathy, Failure ... |
OMIM:612938 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hydrocephalus, Optic atrophy, Choreoathetosis, Ventriculomegaly |
OMIM:614969 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Joint stiffness |
ORPHA:2182 |
Leigh Syndrome |
|
Multiple joint contractures, Hypoglycemia, Dysphagia |
ORPHA:506 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Extra-axial cerebrospinal fluid accumulation, D... |
OMIM:619005 |
Sotos Syndrome |
|
Glucose intolerance, Attention deficit hyperactivity disorder, Neonatal hypoglycemia, Aggressive ... |
OMIM:117550 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Ataxia, Aqueductal stenosis, Hydrocephalus, Gait disturbance, Fail... |
ORPHA:58 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Myocarditis, Leukocytosis, Hyperkalemia, Hypoc... |
ORPHA:544482 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Encephalocele, Increased bone mineral density, Carpal synostosis, Abnormal heart val... |
ORPHA:90652 |
Menkes Disease |
|
Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, ... |
ORPHA:565 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Overweight, Hydrocephalus, Flexion contracture, Gait disturbance, Dilated thir... |
ORPHA:500055 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia |
OMIM:620300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Congenital cont... |
OMIM:613150 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Hepatomegaly, Inguinal hernia, Failure to thrive, Mitral stenosis, Recurrent fracture... |
ORPHA:955 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Silver-Russell Syndrome |
|
Precocious puberty, Premature adrenarche, Recurrent hypoglycemia, Insulin resistance |
ORPHA:813 |
Chiari Malformation Type Ii |
|
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy |
OMIM:207950 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Lateral ventricle dilatation, Atrial septal defect, Enamel hypoplasia, Rod-cone dystrophy, Neonat... |
OMIM:300896 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus, Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:218350 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Neonatal hypoglycemia, Congenital foot contractures |
ORPHA:565624 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Ventriculomegaly, Spina bifida, Thrombocytopenia, Hyd... |
ORPHA:84 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Thrombocytopenia, Extra-axial cerebrospinal flu... |
OMIM:619004 |
Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia, Synostosis of carpal bones |
ORPHA:2307 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Optic disc hypoplasia, Ventriculomegaly |
ORPHA:238769 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Microcytic anemia, Splenomegaly, Osteop... |
OMIM:619525 |
Crouzon Syndrome |
|
Sagittal craniosynostosis, Hydrocephalus, Optic atrophy, Lambdoidal craniosynostosis, Coronal cra... |
OMIM:123500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia |
ORPHA:3320 |
Trisomy 1Q |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:261344 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus |
OMIM:260500 |
Muenke Syndrome |
|
Carpal synostosis, Hydrocephalus, Tarsal synostosis, Coronal craniosynostosis |
ORPHA:53271 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated ... |
ORPHA:3260 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Hydrocephalus, Flex... |
OMIM:253220 |
Bresek Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia |
ORPHA:85284 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Elevated circulating crea... |
OMIM:615287 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Nestor-Guillermo Progeria Syndrome |
|
Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Leptospirosis |
|
Papilledema, Hepatomegaly, Pericarditis, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, O... |
ORPHA:509 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Hydrocephalus, Optic atrophy, Joint hypermobility |
OMIM:618590 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Unsteady gait |
OMIM:617542 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Dandy-Wal... |
OMIM:617822 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus |
OMIM:241800 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Craniosynostosis, Hydrocephalus, Acute lymphoblastic leukemia, Anemia... |
ORPHA:235 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Craniosynostosis, Hydrocephalus, Mitral valve prolapse... |
OMIM:182212 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Hydrocephalus, Flexion contracture, Bone cyst, Osteolysis, Gait disturbance, Anemia |
ORPHA:3042 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Neonatal hypoglycemia |
ORPHA:445038 |
Myopathy, Centronuclear, X-Linked |
|
Hydrocephalus, Flexion contracture, Dandy-Walker malformation |
OMIM:310400 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Decreased skull ossification |
OMIM:300863 |
Cryptococcosis |
|
Lymphoid leukemia, Osteomyelitis, Abnormal retinal morphology, Hydrocephalus, Vitritis, Osteolysi... |
ORPHA:1546 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Absence of subcutaneous fat, Anemia... |
OMIM:620005 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... |
OMIM:615873 |
Isolated Complex I Deficiency |
|
Diabetes mellitus, Hypoglycemia |
ORPHA:2609 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the spleen, Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:1834 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia |
ORPHA:35173 |
Joubert Syndrome |
|
Encephalocele, Ataxia, Situs inversus totalis, Hydrocephalus, Gait disturbance |
ORPHA:475 |
Knobloch Syndrome |
|
Retinal detachment, Occipital encephalocele, Dextrocardia, Hydrocephalus, Abnormal vitreous humor... |
ORPHA:1571 |
Diabetic Embryopathy |
|
Ventricular septal defect, Hydrocephalus, Spinal dysraphism, Transposition of the great arteries,... |
ORPHA:1926 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Athetosis, Hydrocephalus, Delayed ossification of carpal bones, Abnormal heart morphology |
OMIM:239300 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... |
ORPHA:244242 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Insulin resistance, Or... |
ORPHA:96182 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Neonatal hypoglycemia |
OMIM:619055 |
Trisomy 17P |
|
Hypoplastic left heart, Hydrocephalus, Flexion contracture, Aortic valve stenosis |
ORPHA:261290 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Subcutaneous lipoma, Ventricular septal defect, Hydrocephalus, Subvalvular ... |
OMIM:613001 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
Plasminogen Deficiency, Type I |
|
Hydrocephalus, Decreased level of plasminogen, Ventriculomegaly, Dandy-Walker malformation |
OMIM:217090 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Ataxia, Small for gestational age, Splenomegal... |
OMIM:133540 |
Tetrasomy 15Q26 |
|
Atrial septal defect, Hydrocephalus, Dandy-Walker malformation, Camptodactyly |
OMIM:614846 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Hypoketotic hypoglycemia |
OMIM:610768 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Hydrocephalus, Os... |
ORPHA:536467 |
Hec Syndrome |
|
Abnormal retinal vascular morphology, Cardiomyopathy, Communicating hydrocephalus, Endocardial fi... |
ORPHA:2119 |
Oculodentodigital Dysplasia |
|
Umbilical hernia, Camptodactyly of finger, Hypoglycemia, Abnormal dental enamel morphology |
ORPHA:2710 |
Gorlin Syndrome |
|
Vertebral fusion, Hydrocephalus |
ORPHA:377 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Limitation of joint mobility, Advanced ossification of carpal bones... |
OMIM:224400 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Flexion contracture, Humeroradial synostosis, Lambdoidal craniosynostosis, Camptod... |
OMIM:207410 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Optic atrophy, Hydrocephalus |
ORPHA:3301 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Hydrocephalus, Osteoporosis, Enlarged polycystic ovaries |
ORPHA:91348 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia |
OMIM:201475 |
Hemangioblastoma |
|
Retinal capillary hemangioma, Hydrocephalus |
ORPHA:252054 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Ataxia, Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Adrenal insufficiency, Hypoglycemia |
OMIM:307030 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Hydrocephalus, Ventriculomegaly, Joint stiffness |
ORPHA:1860 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilatation, L... |
OMIM:612863 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hiatus hernia, Optic... |
OMIM:122470 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Umbilical hernia, Hypoglycemia |
OMIM:614501 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Umbilical hernia, Hydrocephalus, Optic atrophy, Craniosynostosis |
ORPHA:1555 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Meningococcal Meningitis |
|
Hypothermia, Anorexia |
ORPHA:33475 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Hypoglycemia |
OMIM:620224 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Congenital contracture, Hydrocephalus, Colpocephaly, Ventriculomegaly |
OMIM:620156 |
Perlman Syndrome |
|
Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hypoglycemia |
OMIM:267000 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Osteopenia, Inguinal hernia, Camptodactyly of finger, Craniosynostos... |
ORPHA:2462 |
Raine Syndrome |
|
Increased bone mineral density, Hydrocephalus, Subperiosteal bone formation, Hypophosphatemia, Ar... |
OMIM:259775 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular ca... |
OMIM:264480 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Congenital malformation of the left heart, Loss of facial adip... |
ORPHA:3455 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
Turner Syndrome |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydroc... |
OMIM:613686 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Ataxia, Optic atrophy, Osteoporosis, Anemia, Leukopenia, Th... |
OMIM:305000 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Hydrocephalus, Gait disturbance, Ventriculome... |
ORPHA:1812 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hypoglycemia |
OMIM:608779 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Sagittal craniosynostosis, Craniosynostosis, Limited... |
OMIM:101200 |
Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Abnormal myocardium morphology, Anemia |
ORPHA:36426 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Noncommunicating hydrocephalus |
OMIM:619320 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hydrocephalus, Flexion contracture, Limitation of joint mobility, Abnormal heart m... |
ORPHA:1865 |
Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Congenital diaphragmatic hernia |
ORPHA:1647 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia |
OMIM:232240 |
Achondroplasia |
|
Hip joint hypermobility, Hydrocephalus, Obesity, Knee joint hypermobility, Limited elbow extension |
ORPHA:15 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Hydrocephalus, Ataxia, Gait disturbance |
ORPHA:220497 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Retinal atrophy, Elevated circulating creatine kinase concentration, Hydrocepha... |
OMIM:253280 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Small for gestational age, Hydrocephalus, Pulmonic stenosis, Atrial septal defe... |
OMIM:257300 |
Dural Sinus Malformation |
|
Myelopathy, Papilledema, Hydrocephalus, Ataxia |
ORPHA:97339 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia, Hydrocephalus, Optic atrophy, Retinopathy |
ORPHA:220295 |
Monosomy 9Q22.3 |
|
Large for gestational age, Hydrocephalus, Cardiac fibroma, Joint hyperflexibility, Umbilical hern... |
ORPHA:77301 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1946 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Ventriculomegaly |
OMIM:109120 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypoketotic hypoglycemia |
ORPHA:746 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Optic atrophy... |
ORPHA:137675 |
Toxic Epidermal Necrolysis |
|
Weight loss, Anemia, Neutropenia, Abnormal myocardium morphology, Thrombocytopenia |
ORPHA:537 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Pancytopenia, Neutrophilia, Stiff neck, Elevated circulating creatine kinase concen... |
ORPHA:99827 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia |
ORPHA:228305 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent hypoglycemia, Hypoglycemia, Corneal scarring |
OMIM:256810 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Hydrocephalus, Knee flexion contracture, Sclerosis of skull base, Atrial septa... |
OMIM:618162 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hypoglycemia |
OMIM:210210 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Enlarged kidney, Increased myocardial glycogen... |
OMIM:261740 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Joint laxity, Optic nerve hypoplasia, Inability to walk, Lateral ventricle dilata... |
ORPHA:300570 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Eosinophilia, Hypercalcemia, Scarring, Abnormal cerebrospinal flu... |
ORPHA:797 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, Hydrocephalus, Choroid plexus cyst, Ventriculomegaly |
OMIM:617866 |
Marshall-Smith Syndrome |
|
Omphalocele, Decreased hip abduction, Large sternal ossification centers, Optic nerve hypoplasia,... |
OMIM:602535 |
Thrombocytopenia-Absent Radius Syndrome |
|
Atrial septal defect, Ventricular septal defect, Eosinophilia, Spina bifida, Leukocytosis, Hepato... |
OMIM:274000 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Hepatomegaly, Diabetes mellitus, Small for gestational age, Ventricular septal defe... |
OMIM:243800 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Contracture of the proximal ... |
ORPHA:314585 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Umbilical hernia, Inguinal hernia, Hydrocephalus, Abnormal heart morphology |
OMIM:601499 |
Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydrocephalus, Abnormal heart mo... |
ORPHA:1666 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Ventricular septal defect, Hydrocephalus, Osteoporosis... |
OMIM:102500 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, T lymphocytopenia, B lymphocyto... |
OMIM:251260 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Retinal coloboma, Atrial septal defe... |
OMIM:616546 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Hydrocephalu... |
OMIM:269860 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Atrial septal defect, Failure to thrive, Ventricular septal defect, Hydrocephalus, C... |
OMIM:300373 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Accessory spleen, Occipital encephalocele, Dilated fourth ventricle, Ventriculomegal... |
OMIM:249000 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Leukopenia, Arthritis, Retinopathy, Thrombocytopenia |
ORPHA:536 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Inguinal hernia, Joint stiffness, Splenomegaly, Hydrocephalus, Flexion contracture,... |
OMIM:253200 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Transposition of the great arteries, Atrioventricular canal defect, ... |
OMIM:314390 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Hepatomegaly |
OMIM:607361 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hypoketotic hypoglycemia |
OMIM:609015 |
Pfeiffer Syndrome |
|
Hydrocephalus, Humeroradial synostosis, Elbow ankylosis, Coronal craniosynostosis |
OMIM:101600 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Optic atrophy, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Menkes Disease |
|
Hypothermia |
OMIM:309400 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Craniosynostosis, Hydrocephalus, Optic atrophy, Limited elbow extension, Ventriculomegaly |
OMIM:123790 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Tarsal synostosis, Increased circulating corticosterone lev... |
ORPHA:95699 |
Mend Syndrome |
|
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydrocephalus, Abnormal heart morpholog... |
ORPHA:401973 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia |
OMIM:615751 |
Immunodeficiency 59 And Hypoglycemia |
|
Hypoglycemia |
OMIM:233600 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Hernia of the abdominal wall, Tetralogy of Fallot, Anomalous pulmona... |
ORPHA:2184 |
Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Inability to walk, Hydrocephalus, Gait disturban... |
ORPHA:2356 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Abnormal heart valve morphology, Hydrocephalus, Optic atrophy, Pulm... |
ORPHA:1340 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
Cholera |
|
Hypoglycemia |
ORPHA:173 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Elevated circulating creatine kinase concentration, Retinal arteriolar tortuosi... |
OMIM:175780 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Congenital diaph... |
ORPHA:2556 |
Tetrasomy 5P |
|
Pericallosal lipoma, Hydrocephalus, Failure to thrive |
ORPHA:3309 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Retinal dystrophy, Aqueductal stenosis, Hydrocephalus, Optic atrophy, Atrial septal defect, Arthr... |
OMIM:619512 |
Acute Liver Failure |
|
Hyperammonemia, Ataxia, Hypoglycemia, Thrombocytopenia |
ORPHA:90062 |
Chromosome 17P13.1 Deletion Syndrome |
|
Joint laxity, Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, U... |
OMIM:613776 |
47,Xyy Syndrome |
|
Congenital stationary night blindness, Hydrocephalus |
ORPHA:8 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Abnormal repetitive mannerisms, Polyphagia, Self-injurious behavior, Hyp... |
ORPHA:1606 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Pericarditis, Congenital diaphragmatic hernia, Craniosynostosis, Pericardial eff... |
ORPHA:1272 |
Jacobsen Syndrome |
|
Inguinal hernia, Ventricular septal defect, Spina bifida, Thrombocytopenia, Hypoplastic left hear... |
ORPHA:2308 |
Apert Syndrome |
|
Hydrocephalus, Optic atrophy, Cervical C5/C6 vertebrae fusion, Ventriculomegaly |
ORPHA:87 |
Stromme Syndrome |
|
Accessory spleen, Hydrocephalus, Optic nerve hypoplasia, Retinal vascular tortuosity |
OMIM:243605 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Pigm... |
OMIM:309801 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Genitopalatocardiac Syndrome |
|
Hydrocephalus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:2075 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Sagittal craniosynostosis, Limited elbow mo... |
ORPHA:221120 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital diaphragmatic her... |
ORPHA:373 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Ataxia, Recurrent fractures, Joint stiffness, Hydrocephalus,... |
ORPHA:636 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... |
OMIM:619895 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Chorioretinal coloboma... |
ORPHA:268249 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint laxity, Atrial septal defect, Small for gestational age, Joint hypermobility, Craniosynosto... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint laxity, Atrial septal defect, Small for gestational age, Joint hypermobility, Craniosynosto... |
ORPHA:363958 |
Medulloblastoma |
|
Ataxia, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cerebellar ataxia associated wit... |
ORPHA:616 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Hypoglycemia |
OMIM:252010 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Elbow flexion contracture, Hypothermia |
OMIM:618493 |
Hydrolethalus |
|
Hydrocephalus, Anencephaly |
ORPHA:2189 |
Roberts Syndrome |
|
Progressive flexion contractures, Craniosynostosis, Knee flexion contracture, Radioulnar synostos... |
ORPHA:3103 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Ventricular septal defect, Holoprosencephaly |
ORPHA:77298 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Abnormal chorioretinal morphology, Asplenia, Situs inversus tota... |
ORPHA:564 |
Kabuki Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:300867 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Hydrocephalus, Joint hyperflexibility, Abnormal cardiac septum morphology, Failu... |
ORPHA:250989 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Abnormal optic... |
ORPHA:3412 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Small for gestational age... |
OMIM:264090 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Polyphagia, Dysphagia, Congenital hypothyroidism, C... |
OMIM:607872 |
Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Multiple joint contractures, Hydrocephalus, Abnormal heart morphology, Camptodac... |
OMIM:305450 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Adrenocortical cytomegaly, Inguinal hernia, Hypoglycemia, Congenital diaphragmatic h... |
ORPHA:116 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia |
ORPHA:647 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Joint laxity, Neonatal hypoglycemia, Large for gestational age, Limi... |
ORPHA:457359 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Limitation of joint mobility, Tracheomalacia |
ORPHA:93259 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Overweight, Dilated third ventricle, Hydrocephalus, Lateral ventricle ... |
OMIM:619575 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Craniosynostosis, Hydrocephalus, Dandy-W... |
OMIM:605627 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Myelopathy, Unst... |
ORPHA:637 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Normochromic anemia, Arthritis, Optic neuritis, Decreased proporti... |
ORPHA:289390 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Atrial septal defect, Hypoglycemia, Ventricular septal d... |
OMIM:218040 |
Marden-Walker Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Joint stiffness, Situs inversus... |
ORPHA:2461 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Ventricular septal defect, Splenomegaly, Obesity, Anemia, Hypopl... |
OMIM:188400 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Communicating hydrocephalus, Situs inversus totalis |
OMIM:244400 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Oxoglutaric Aciduria |
|
Hydrocephalus, Ataxia |
ORPHA:31 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Central adre... |
ORPHA:488632 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Iniencephaly |
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Omphalocele, Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, Hydr... |
ORPHA:63259 |
Basal Cell Nevus Syndrome 1 |
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Vertebral fusion, Spina bifida, Hydrocephalus, Irregular ossification of hand bones, Cardiac fibr... |
OMIM:109400 |
Hutchinson-Gilford Progeria Syndrome |
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Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... |
ORPHA:740 |
Ethylene Glycol Poisoning |
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Cyanosis, Addictive alcohol use, Hypothermia |
ORPHA:31826 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
Thakker-Donnai Syndrome |
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Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... |
ORPHA:1780 |
Arachnoiditis |
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Hydrocephalus |
ORPHA:137817 |
Fanconi Anemia, Complementation Group L |
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Hydrocephalus, Anemia |
OMIM:614083 |
Thoracoabdominal Syndrome |
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Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Transpo... |
OMIM:313850 |
Meningioma |
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Papilledema, Decreased circulating cortisol level, Ataxia, Hydrocephalus, Obesity, Difficulty wal... |
ORPHA:2495 |
Cousin Syndrome |
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Hydrocephalus, Humeroradial synostosis, Camptodactyly, Hydranencephaly, Joint contracture of the ... |
OMIM:260660 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Joint laxity, Absent sternal ossification, Spina bifida, Cont... |
OMIM:114290 |
Achondroplasia |
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Limited elbow extension, Hydrocephalus, Generalized joint laxity, Limited hip extension |
OMIM:100800 |
Alport Syndrome 1, X-Linked |
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Thrombocytopenia |
OMIM:301050 |
Trisomy 8P |
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Multiple joint contractures, Abnormal atrioventricular connection, Hydrocephalus, Abnormal left v... |
ORPHA:264450 |
Ventriculomegaly With Cystic Kidney Disease |
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Hydrocephalus, Ventricular septal defect, Ventriculomegaly |
OMIM:219730 |
Cole-Carpenter Syndrome |
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Communicating hydrocephalus, Joint hyperflexibility, Recurrent fractures, Abnormal dental enamel ... |
ORPHA:2050 |
Endocrine-Cerebroosteodysplasia |
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Enlarged kidney, Hydrocephalus, Holoprosencephaly, Ventriculomegaly |
OMIM:612651 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Communicating hydrocephalus, Craniosynostosis |
ORPHA:1064 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Hyperglycemia, Hypoglycemia, Inguinal hernia, Dysphagia |
OMIM:220111 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Hydrocephalus |
OMIM:616482 |
Isotretinoin Embryopathy-Like Syndrome |
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Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Kabuki Syndrome |
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Congenital diaphragmatic hernia, Hydrocephalus, Obesity, Joint hyperflexibility, Abnormal cardiac... |
ORPHA:2322 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Flexion contracture, Hypothermia, Dysphagia |
ORPHA:99027 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia, Weight loss |
ORPHA:79078 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Inguinal hernia, Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Joint hypermobility |
ORPHA:457284 |
Microphthalmia With Limb Anomalies |
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Tarsal synostosis, Hydrocephalus, Optic atrophy, Joint hyperflexibility, Camptodactyly of 2nd-5th... |
ORPHA:1106 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
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Omphalocele, Encephalocele, Hydrocephalus, Abnormal cardiac septum morphology, Holoprosencephaly,... |
ORPHA:2166 |
Alström Syndrome |
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Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... |
ORPHA:64 |
Renal Agenesis, Bilateral |
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Nonketotic hypoglycemia |
ORPHA:1848 |
Hereditary Fructose Intolerance |
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Reactive hypoglycemia |
ORPHA:469 |
Mend Syndrome |
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Hydrocephalus, Macular hypoplasia, Aortic valve stenosis, Failure to thrive, Dandy-Walker malform... |
OMIM:300960 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Umbilical hernia, Hydrocephalus, Mitral valve prolapse |
OMIM:104350 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Lower limb dysmetria, Ventricular septal defect, Hydrocephalus, Bone cyst, Abnormal heart morphol... |
ORPHA:363700 |
Laurin-Sandrow Syndrome |
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Hydrocephalus, Limitation of joint mobility, Tarsal synostosis |
ORPHA:2378 |
Fontaine Progeroid Syndrome |
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Reduced subcutaneous adipose tissue, Atrial septal defect, Small for gestational age, Bicuspid ao... |
OMIM:612289 |
Limb Body Wall Complex |
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Ventral hernia, Encephalocele, Ventricular septal defect, Spina bifida, Congenital diaphragmatic ... |
ORPHA:2369 |
Acrofacial Dysostosis 1, Nager Type |
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Ventricular septal defect, Congenital diaphragmatic hernia, Aqueductal stenosis, Hydrocephalus, R... |
OMIM:154400 |
Occipital Horn Syndrome |
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Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... |
ORPHA:198 |
Baller-Gerold Syndrome |
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Optic nerve hypoplasia, Sagittal craniosynostosis, Craniosynostosis, Limited elbow movement, Hydr... |
OMIM:218600 |
Beckwith-Wiedemann Syndrome |
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Omphalocele, Adrenocortical carcinoma, Adrenocortical cytomegaly, Neonatal hypoglycemia |
OMIM:130650 |
Kabuki Syndrome 1 |
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Hemolytic anemia, Ventricular septal defect, Autoimmune thrombocytopenia, Hydrocephalus, Lateral ... |
OMIM:147920 |
Distal 22Q11.2 Microduplication Syndrome |
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Ventricular septal defect, Camptodactyly of finger, Hydrocephalus, Optic disc coloboma, Tricuspid... |
ORPHA:261337 |
Tetrasomy 9P |
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Pericarditis, Abnormal chorioretinal morphology, Abnormal dental enamel morphology, Dextrocardia,... |
ORPHA:3310 |
Basal Cell Nevus Syndrome 2 |
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Hydrocephalus |
OMIM:620343 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Vertebral fusion, Small for gestational age, Ventricular septal defect, Hydroce... |
OMIM:194190 |
Isolated Posterior Meningocele |
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Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Difficulty walking, Occipit... |
ORPHA:268810 |
Lymphangioleiomyomatosis |
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Retinal hamartoma, Hydrocephalus, Optic atrophy, Chylopericardium, Shagreen patch |
ORPHA:538 |
3-Methylglutaconic Aciduria, Type Viii |
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Neonatal hypoglycemia, Dysphagia |
OMIM:617248 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Holoprosencephaly 1 |
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Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia |
OMIM:236100 |
Lhermitte-Duclos Disease |
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Hydrocephalus, Ataxia |
ORPHA:65285 |
Large Congenital Melanocytic Nevus |
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Hydrocephalus |
ORPHA:626 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Communicating hydrocephalus, Joint laxity, Large for gestational age, Gait ataxia, Ventriculomegaly |
OMIM:617011 |
Hypoplasminogenemia |
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Hydrocephalus, Decreased level of plasminogen, Dandy-Walker malformation |
ORPHA:722 |
Loeys-Dietz Syndrome 2 |
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Joint laxity, Inguinal hernia, Bicuspid aortic valve, Craniosynostosis, Hydrocephalus, Bicuspid p... |
OMIM:610168 |
Holoprosencephaly 7 |
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Omphalocele, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly,... |
OMIM:610828 |
Yunis-Varon Syndrome |
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Atrial septal defect, Absent sternal ossification, Ventricular septal defect, Cardiomegaly, Hydro... |
ORPHA:3472 |
Pmm2-Cdg |
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Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... |
ORPHA:79318 |
Primary Fanconi Renotubular Syndrome |
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Hypoglycemia, Glycosuria |
ORPHA:3337 |
Alobar Holoprosencephaly |
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Inability to walk, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Neural tube def... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Inability to walk, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Neural tube def... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Inability to walk, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Neural tube def... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Inability to walk, Hydrocephalus, Flexion contracture, Abnormal heart morphology, Neural tube def... |
ORPHA:220386 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Nail-biting, Fasciitis, Hyperactivity, Hypothermia, Impulsivity, Corneal scarring, Atypical scarr... |
ORPHA:642 |
Loeys-Dietz Syndrome 1 |
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Joint laxity, Bicuspid aortic valve, Craniosynostosis, Hydrocephalus, Bicuspid pulmonary valve, M... |
OMIM:609192 |
Noonan Syndrome 1 |
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Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
Meckel Syndrome, Type 6 |
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Occipital encephalocele, Hydrocephalus, Anencephaly |
OMIM:612284 |
Orofaciodigital Syndrome I |
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Enamel hypoplasia, Myelomeningocele, Hydrocephalus, Abnormal heart morphology |
OMIM:311200 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Atrial septal defect, Inguinal hernia, Hepatomegaly, Ventricular septal defect, Congenital diaphr... |
OMIM:312870 |
Mohr Syndrome |
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Hydrocephalus |
OMIM:252100 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Sacral lipoma |
OMIM:600145 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Hypothermia, Dysphagia |
ORPHA:255210 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Small for gestational age, Elbow contracture, Camptodactyly of finger, Hydroceph... |
OMIM:208150 |
Focal Dermal Hypoplasia |
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Omphalocele, Joint laxity, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Hydro... |
OMIM:305600 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hypothermia, Abnormality of the endocrine system, Precocious puberty, Abnormality of the anterior... |
ORPHA:438213 |
Peters-Plus Syndrome |
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Joint laxity, Ventricular septal defect, Craniosynostosis, Limited elbow movement, Hydrocephalus,... |
OMIM:261540 |
Peters Plus Syndrome |
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Inguinal hernia, Hydrocephalus, Bicuspid pulmonary valve, Optic atrophy, Abnormal cardiac septum ... |
ORPHA:709 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Omphalocele, Hydrocephalus |
ORPHA:2736 |
Tuberous Sclerosis Complex |
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Retinal astrocytic hamartoma, Retinal hamartoma, Noncommunicating hydrocephalus, Cardiac rhabdomy... |
ORPHA:805 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Hydrocephalus, Optic nerve compression |
ORPHA:91350 |
Ciliary Dyskinesia, Primary, 43 |
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Noncommunicating hydrocephalus |
OMIM:618699 |
Capillary Malformation-Arteriovenous Malformation |
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Hydrocephalus, Abnormal heart morphology |
ORPHA:137667 |
Townes-Brocks Syndrome 1 |
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Small for gestational age, Ventricular septal defect, Hydrocephalus, Metatarsal synostosis, Holop... |
OMIM:107480 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus |
ORPHA:3016 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Communicating hydrocephalus, Septo-optic dysplasia, Aplasia of the right hemidiaphragm, Mild feta... |
OMIM:619841 |
Sotos Syndrome |
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Hip contracture, Inguinal hernia, Ankle flexion contracture, Aggressive behavior, Bilateral campt... |
ORPHA:821 |
Holoprosencephaly 9 |
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Hydrocephalus, Holoprosencephaly, Optic nerve hypoplasia |
OMIM:610829 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Tetraamelia Syndrome 1 |
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Asplenia, Hydrocephalus, Congenital diaphragmatic hernia |
OMIM:273395 |
Otopalatodigital Syndrome, Type Ii |
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Omphalocele, Elbow contracture, Spina bifida, Hydrocephalus, Sclerosis of skull base, Nonossified... |
OMIM:304120 |
Fraser Syndrome 1 |
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Encephalocele, Myelomeningocele, Hydrocephalus, Abnormal heart morphology |
OMIM:219000 |
Roberts-Sc Phocomelia Syndrome |
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Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Craniosynostosis, Hydroce... |
OMIM:268300 |
Fraser Syndrome 3 |
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Hydrocephalus |
OMIM:617667 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Omphalocele, Ventricular septal defect, Complete atrioventricular canal defect,... |
OMIM:236680 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Lipoma |
ORPHA:573278 |
Coffin-Siris Syndrome 12 |
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Joint laxity, Tetralogy of Fallot, Noncommunicating hydrocephalus, Radioulnar synostosis, Failure... |
OMIM:619325 |
Exstrophy-Epispadias Complex |
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Omphalocele, Inguinal hernia, Spina bifida, Hydrocephalus, Cystocele, Abnormal heart morphology |
ORPHA:322 |
Oeis Complex |
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Omphalocele, Myelomeningocele, Hydrocephalus |
OMIM:258040 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Block vertebrae, Ventricular septal defect, Hydrocephalus, Tetralogy of ... |
OMIM:164210 |