| Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
| Photoparoxysmal Response 1 |
|
EEG with photoparoxysmal response |
OMIM:132100 |
| Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
| Epilepsy, Benign Occipital |
|
EEG abnormality |
OMIM:132090 |
| Epilepsy, Reading |
|
EEG abnormality |
OMIM:132300 |
| Schizophrenia |
|
EEG abnormality |
OMIM:181500 |
| Nodular Neuronal Heterotopia |
|
EEG abnormality |
ORPHA:2149 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, EEG wit... |
OMIM:601068 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology |
OMIM:601780 |
| Carnosinase Deficiency |
|
EEG abnormality |
ORPHA:1361 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Leth... |
OMIM:619064 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
| Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Ataxia, Decreased circulati... |
ORPHA:48818 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... |
ORPHA:210122 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
ORPHA:42 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ... |
ORPHA:465508 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan... |
OMIM:615710 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomyopathy, Gait disturbance, ... |
OMIM:619259 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... |
OMIM:603903 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Situs inversus totalis, Biliary cirrhosis, Cholestasis, He... |
OMIM:267010 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... |
OMIM:232220 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Reduced C-peptide level, Pancreatic aplasia, Exocrine pancreatic insuffici... |
OMIM:260370 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... |
OMIM:601678 |
| Pancreatitis, Hereditary |
|
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Ataxia, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, D... |
ORPHA:456312 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
| Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Recurrent pancreat... |
ORPHA:676 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
| Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Abnormal pericardium morphology, Pancrea... |
ORPHA:284 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Enlarged kidney |
OMIM:200995 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Ataxia, Dysmetria, Hepatic fibrosis, Hepatic steatosis, Exocri... |
OMIM:616263 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... |
OMIM:617052 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormal pancreas morphology, Enlarged lacri... |
ORPHA:449432 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... |
OMIM:617941 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Pericardial effusion, Thrombocytopenia, Abnormality of the lympha... |
ORPHA:464329 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
| Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... |
OMIM:208500 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Testicular adrenal rest tumor, Hypochloremia, Decreased testicular size |
ORPHA:90794 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Pancreatic fibrosis |
OMIM:615503 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, C... |
ORPHA:116 |
| Bohring-Opitz Syndrome |
|
Atrial septal defect, Ventricular septal defect, Supernumerary nipple, Hyperechogenic pancreas |
OMIM:605039 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... |
ORPHA:731 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
| Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod... |
ORPHA:677 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Elevated circulating creatinine concentration, Mitral... |
ORPHA:730 |
| Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Polysplenia, Annular p... |
OMIM:164280 |
| Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology, Cholelithiasis, Annular panc... |
ORPHA:97297 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Bon... |
OMIM:227646 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Exocrine pa... |
ORPHA:2255 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Asplenia, Partial anoma... |
OMIM:265380 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Annular pancreas |
OMIM:618162 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Inability to walk, Annular pancreas, Ataxia, Gait imbalance |
ORPHA:488642 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Atrial septal defect, Ventricular septal defect, Hepatic fibrosis |
OMIM:263520 |
| Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Abnormal left ventricle morphology, Aplasia... |
ORPHA:264450 |
| Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology |
ORPHA:1190 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Annular pancreas, Thrombocytopenia |
OMIM:147791 |
| 1P36 Deletion Syndrome |
|
Abnormal heart valve morphology, Abnormality of the spleen, Cryptorchidism, Dilated cardiomyopath... |
ORPHA:1606 |
| Distal Deletion 12Q |
|
Unilateral cryptorchidism, Pituitary adenoma, Biliary atresia, Congenital hypertrophy of left ven... |
ORPHA:96149 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Aortic valve stenosis, Bone ma... |
ORPHA:2308 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Ventricular septal defect, Cryptorchidism, Polysplenia, Atrial septal ... |
OMIM:229850 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cryptorchidism, Annular pancreas, Patent foramen ovale, Ventricular septal defect |
OMIM:616975 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Reduced C-peptide level, Absent gallbladder, Hypoamylasemia, Pancreatic aplasia |
ORPHA:556955 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Hepatic hemangioma, Pheochromocytoma, Polycythemia |
OMIM:193300 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Annular pancreas |
OMIM:268400 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Myeloid leukemia, Abnormal heart morphology, Hepatoblastoma, Annular pancreas |
ORPHA:798 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk |
OMIM:620114 |
