| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Myoclonic seizure, Hypernatremia, Seizure, Gingival overgrowth, Hyperglycinemia, Open mouth, Infa... |
OMIM:620423 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizur... |
OMIM:619970 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... |
OMIM:600512 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia, Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
| Developmental And Epileptic Encephalopathy 53 |
|
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Elevated circulating ... |
OMIM:617389 |
| Developmental And Epileptic Encephalopathy 9 |
|
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... |
OMIM:300088 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Downturned corners of mouth, Seizure, Wide mouth, Microdontia, Motor stereotypy,... |
OMIM:618347 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Seizure, Hyperactivity, Dystonia, Dysphagia, Status epilepticus, Impulsivity |
OMIM:620448 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Seizure, Hemolytic anemia, Hypernatremia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Seizure, Hemolytic anemia, Hypernatremia |
ORPHA:529808 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Abnormalit... |
OMIM:613752 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:101039 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia, Seizure |
ORPHA:94124 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Seizure, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Seizure, Hyperactivity |
ORPHA:356996 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia, Seizure |
OMIM:607250 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Seizure, Infantile spasms, Aggressive behavior, Hyperactivity, Mandibula... |
OMIM:619031 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Herpes Simplex Virus Encephalitis |
|
Seizure, Status epilepticus, Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Ele... |
ORPHA:1930 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Seizure, Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Seizure, Hypernatremia |
OMIM:304800 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Enamel hypoplasia, Seizure |
OMIM:618349 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Seizure, Neutropenia |
OMIM:616949 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Stxbp1-Related Encephalopathy |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm, Infant... |
ORPHA:599373 |
| Neuroleptic Malignant Syndrome |
|
Oculogyric crisis, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, ... |
ORPHA:94093 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Seizure, Infantile spasms, Recurrent hand ... |
ORPHA:3008 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Generalized-onset seizure, Leukocytosis, Hyponatremia, Thrombocytopenia, Status epilepticus, Foca... |
ORPHA:83601 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... |
OMIM:620632 |
| Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Infantile spasms, Attention deficit hyperactivity disorder, Hyperactivity, Bil... |
OMIM:617113 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Leishmaniasis |
|
Hypoalbuminemia, Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Abnormal macrophage m... |
ORPHA:507 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Anorexia, Anemia... |
OMIM:209950 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... |
ORPHA:64753 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Seizure, Increased circulating ferritin concentration, Increas... |
OMIM:267700 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Generalized non-motor (absence) seizure, Myoclonus, Tremor, Elevated circulating creatine kinase ... |
OMIM:614018 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Seizure, Myoclonus, Tremor, Hyperactivity, Hypertriglyceridemia, Dystonia |
OMIM:615924 |
| Developmental And Epileptic Encephalopathy 112 |
|
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Status epi... |
OMIM:620537 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Aggressive behavior, Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Seizure, Hypernatremia, Anorexia |
ORPHA:223 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Anemia, Hyperlipidemia |
OMIM:603278 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... |
OMIM:610600 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Elevated circulating alpha-aminoadipic semialdehyde concentration,... |
OMIM:266100 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
| Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Focal-onset se... |
ORPHA:725 |
| Webb-Dattani Syndrome |
|
Bilateral tonic-clonic seizure, Deep philtrum, Retrognathia, Hypernatremia |
OMIM:615926 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Leukocytosis, Anemia, Eosinophilia, Elevated circulating C-reactive protein conc... |
ORPHA:2070 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity, Seizure |
OMIM:300271 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Monocytopenia, ... |
OMIM:226990 |
| Benign Familial Infantile Epilepsy |
|
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Seizure, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hype... |
ORPHA:247585 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Hyperprolinemia, Type I |
|
Seizure, Hyperprolinemia, Aggressive behavior, Hyperactivity, Motor stereotypy, Status epilepticus |
OMIM:239500 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
| Epilepsy, Early-Onset, 3, With Or Without Developmental Delay |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:620465 |
| Central Diabetes Insipidus |
|
Hyponatremia, Polydipsia, Seizure, Anorexia |
ORPHA:178029 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Abnormal salivary gland morphology |
ORPHA:3225 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Focal impaired awareness seizure, Seizure, Aggressive behavior, Hyperact... |
ORPHA:382 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Myoclonus, Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clo... |
OMIM:608105 |
| Lissencephaly 10 |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:618873 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis |
OMIM:619398 |
| Glycine Encephalopathy 1 |
|
Seizure, Hyperglycinemia, Myoclonus, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Developmental And Epileptic Encephalopathy 26 |
|
Focal impaired awareness seizure, Infantile spasms, Stereotypical hand wringing, Bilateral tonic-... |
OMIM:616056 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Attention deficit ... |
OMIM:245570 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aggressive behavior, Attenti... |
OMIM:619157 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Seizure, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia |
OMIM:620152 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Dystonia, Myoclonus, Seizure |
ORPHA:163921 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla, Myoclonus, Tremor, Thin upper lip vermilion, Absence seizure with eye... |
OMIM:618587 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Seizure, Increased total bilirubin, Increased circulating ferr... |
OMIM:603553 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Aggressive behavior, Bilateral tonic... |
OMIM:618357 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Long philtrum, Seizure, Hypocholesterolemia, Splenomegaly, Lipodystrophy, Wide m... |
OMIM:608776 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... |
OMIM:615400 |
| Alg6-Cdg |
|
Hypoalbuminemia, Macroglossia, Decreased LDL cholesterol concentration, Seizure |
ORPHA:79320 |
| Developmental And Epileptic Encephalopathy 31A |
|
Self-injurious behavior, Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-cloni... |
OMIM:616346 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:615751 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Downturned corners of mouth, Reduced C-peptide level, Bilateral tonic-clonic s... |
OMIM:618856 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... |
OMIM:208920 |
| Lennox-Gastaut Syndrome |
|
Myoclonus, Focal-onset seizure, Aggressive behavior, Generalized tonic seizure, Hyperactivity, Bi... |
ORPHA:2382 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... |
ORPHA:101046 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... |
ORPHA:556037 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Cleft lip, Micrognathia, Smooth philtrum, Hypercholesterolemia, High palate, Cle... |
OMIM:616730 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Generalized-onset seizure, Decreased circulating renin level, Hyponatremia, Reduced blood urea ni... |
OMIM:300539 |
| Landau-Kleffner Syndrome |
|
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Generalized non-motor (a... |
ORPHA:98818 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Tremor, Myoclonus, Seizure |
OMIM:615127 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Developmental And Epileptic Encephalopathy 24 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615871 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... |
OMIM:241600 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... |
OMIM:616267 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Retrognathia, Seizure, Tremor, Aggressive behavior, Hyperactivity, High palate |
OMIM:300983 |
| Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperac... |
OMIM:301008 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Geographic tongue, Elevat... |
ORPHA:247353 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... |
ORPHA:556030 |
| Developmental And Epileptic Encephalopathy 67 |
|
Generalized non-motor (absence) seizure, Recurrent hand flapping, Focal hemiclonic seizure, Tonic... |
OMIM:618141 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Generalized-onset seizure, Postural tremor, Myoclonus, Action tremor, Thrombocyt... |
OMIM:254900 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... |
ORPHA:158061 |
| Dravet Syndrome |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... |
OMIM:607208 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia |
OMIM:619013 |
| Hartnup Disorder |
|
Seizure, Generalized tonic seizure, Attention deficit hyperactivity disorder, Hyperactivity, Glos... |
OMIM:234500 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Elevated circulating gamma-amin... |
OMIM:271980 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Abnormal fear-induced behavior, Abnormal circulating porphyrin concent... |
ORPHA:100924 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Seizure, Aggressive behavior, Hyperactivity, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:177735 |
| Developmental And Epileptic Encephalopathy 13 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614558 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Seizure |
OMIM:240200 |
| Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Myoclonic seizure, Downturned corners of mout... |
OMIM:618067 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Seizure, Elbow flexion contracture, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:619470 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Seizure, Sidero... |
OMIM:617021 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Seizure, Generalized-onset seizure, Micrognathia, Self-mutilation, Aggressive behavior, Hyperacti... |
OMIM:604317 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Elevated circulating guan... |
OMIM:612736 |
| Alg1-Cdg |
|
Hypoalbuminemia, Seizure |
ORPHA:79327 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... |
OMIM:617831 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... |
OMIM:619317 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Seizure |
OMIM:614736 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... |
ORPHA:103910 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Seizure, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemi... |
ORPHA:1667 |
| Myoclonic Epilepsy Of Infancy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:86909 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) ... |
ORPHA:36387 |
| Developmental And Epileptic Encephalopathy 94 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:615369 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, Increased ... |
ORPHA:86816 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:604403 |
| Xq25 Microduplication Syndrome |
|
Seizure, Malar flattening, Hyperactivity, Thick vermilion border, Mandibular prognathia |
ORPHA:521258 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Long philtrum, Elevated circulating creatinine concentration, Camptodactyly, Thr... |
OMIM:608104 |
| Reni Syndrome |
|
Hypoalbuminemia, Lymphopenia, Seizure, Hypertriglyceridemia |
OMIM:617575 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Retrognathia, Thick lower lip vermilion, Bruxism, Persistence of primary teeth, ... |
OMIM:618342 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal impaired awareness seizure, Focal-onset seizure, Attention deficit hyperactivity disorder, ... |
OMIM:617935 |
| Developmental And Epileptic Encephalopathy 42 |
|
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seizure, Bil... |
OMIM:617106 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... |
OMIM:619381 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Joint contracture of the hand, Delayed eruption of teeth, Retrognathia, Umbilica... |
OMIM:235510 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Seizure, Generalized-onset seizure, Aggressive b... |
OMIM:619827 |
| Epilepsy, Myoclonic Juvenile |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... |
OMIM:254770 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hypoplasia of the maxilla, Retrognathia, Micrognathia, Malar flattening, Hyponatremia, Mandibular... |
OMIM:620157 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Seizure |
OMIM:615244 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Hemophagocytosis, Seizure, Increased circulating ferritin concentration, Splenom... |
ORPHA:540 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Hypernatremia, Cleft upper lip, Median cleft upper lip, Bilateral... |
OMIM:615465 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Generalized myoclonic seizure, Typical absence seizure, Oculogyric crisi... |
ORPHA:208447 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... |
OMIM:613845 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Short philtrum, Hyperactivity, Seizure |
OMIM:300928 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... |
ORPHA:89842 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Seizure, Thick lower lip vermilion, Inguinal hernia, Thin upper lip verm... |
OMIM:618362 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Seizure, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Thick vermilion bor... |
OMIM:619927 |
| Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Hemidystonia, Fo... |
ORPHA:1929 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Febrile seizure (within the age range of 3 months to 6 years), Focal-ons... |
OMIM:618917 |
| Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Seizure, Hyponatremia, Camptodactyly, Thrombocytopenia, A... |
ORPHA:79325 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... |
ORPHA:292 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic spasm, Opisthotonus, Tonic ... |
OMIM:619913 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... |
ORPHA:86839 |
| Developmental And Epileptic Encephalopathy 109 |
|
Myoclonic seizure, Typical absence seizure, Myoclonus, Focal hemiclonic seizure, Tonic seizure, H... |
OMIM:620145 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemic seizures |
ORPHA:199296 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Wide mouth, Seizure, Thin upper lip vermilion |
OMIM:608688 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Seizure, Generalized-onset seizure, Hypocholesterolemia, Tremor, Abnormal subcut... |
OMIM:212065 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Anorexia |
ORPHA:2494 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Recurrent hand flapping, ... |
OMIM:615516 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism |
OMIM:264350 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:616172 |
| Hereditary Coproporphyria |
|
Hyponatremia, Atypical scarring of skin, Abnormal circulating porphyrin concentration, Seizure |
ORPHA:79273 |
| Snakebite Envenomation |
|
Gingival bleeding, Neuromuscular dysphagia, Pseudobulbar paralysis, Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Seizure, Generalized lipodystrophy, Myoclonus, Reduced subcutaneous adipose tissue, Limb dystonia... |
ORPHA:363400 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Narrow palate, Mandibular prognathia, Hyperactivity, Seizure |
OMIM:617169 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Seizure |
ORPHA:91354 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Downturned corners of mouth, Seizure, Bruxism, Tremor, Motor stereotypy,... |
OMIM:618718 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Flexion contractur... |
ORPHA:682 |
| Kohlschutter-Tonz Syndrome |
|
Myoclonic seizure, Seizure, Amelogenesis imperfecta, Enamel hypoplasia, Bilateral tonic-clonic se... |
OMIM:226750 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Tonic seizure, Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:618090 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circ... |
ORPHA:171876 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Thin upper lip vermilion,... |
OMIM:620292 |
| Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental malocclusion, Dental crowding, Oral-pharyngeal dysphagia, Seizure, ... |
OMIM:610883 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... |
ORPHA:64743 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Overfriendliness, Aggress... |
OMIM:618010 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Seizure, Hypomagnesemia, Generalized-onset seizure, Hypokalemia, Hyperactivity, Self-biting, Stat... |
OMIM:618314 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... |
OMIM:607682 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure, Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Abnormality of the dentition, Abnormal circulating homocyste... |
ORPHA:88618 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Generalized non-motor (absence) seizure, Seizure, Thick upper lip vermilion, Open mouth, Thin upp... |
OMIM:300558 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Avian Influenza |
|
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... |
ORPHA:454836 |
| Immunodeficiency 114, Folate-Responsive |
|
Carious teeth, Seizure, Increased circulating ferritin concentration, Lymphopenia, Aphthous ulcer... |
OMIM:620603 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Micrognathia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Chédiak-Higashi Syndrome |
|
Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal... |
ORPHA:167 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ... |
OMIM:242150 |
| Developmental Delay With Or Without Epilepsy |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the ... |
OMIM:620540 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| Chromosome Xq25 Duplication Syndrome |
|
Seizure, Malar flattening, Hyperactivity, Thick vermilion border, Mandibular prognathia |
OMIM:300979 |
| Phenylketonuria |
|
Seizure, Self-mutilation, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorde... |
OMIM:261600 |
| Alg12-Cdg |
|
Hypoalbuminemia, Seizure, Hypocholesterolemia, Micrognathia, Hyponatremia, Thin upper lip vermili... |
ORPHA:79324 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia |
OMIM:226300 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Myoc... |
ORPHA:485350 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Hypophosphatemia, Everted lowe... |
ORPHA:534 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Leukopenia, Thick vermilion border, Splenomegaly, Neutropenia, Thrombocytopenia,... |
OMIM:617303 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem... |
ORPHA:36234 |
| Myopathy With Extrapyramidal Signs |
|
Seizure, Extremely elevated creatine kinase, Leukocytosis, Splenomegaly, Tented upper lip vermili... |
OMIM:615673 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Dental crowding, Seizure, Tented upper lip vermilion, Open mouth, Hyperactivity, Mandibular progn... |
OMIM:300143 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609253 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
| Febrile Seizures, Familial, 4 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:604352 |
| Myoclonic-Astatic Epilepsy |
|
Long philtrum, Thick lower lip vermilion, Generalized non-motor (absence) seizure, Focal-onset se... |
ORPHA:1942 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Corneal scarring, Absence of subcutaneous fat, Enamel hypoplasia, Premature loss... |
OMIM:610965 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Seizure, Thin upper lip vermilion, Aggressive behavior, Attention deficit hyperactivity disorder,... |
OMIM:301013 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Elbow flexion contracture, Anorexia, Myoclonus, Tremor, Hyponatremia, Opisth... |
ORPHA:79139 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Generalized non-motor (absence) seizure, Thick lower lip vermilion, Seizure, Tented upper lip ver... |
OMIM:619854 |
| Mirage Syndrome |
|
Seizure, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplast... |
OMIM:617053 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Seizure, Hyperuricemia, Macrocytic anemia, Hyponatremia, Decreased circulating... |
ORPHA:199299 |
| Rabin-Pappas Syndrome |
|
Retrognathia, Seizure, Micrognathia, Malar flattening, Hyponatremia, Mandibular prognathia |
OMIM:620155 |
| Developmental And Epileptic Encephalopathy 49 |
|
Myoclonic seizure, Thick upper lip vermilion, Open mouth, Tented upper lip vermilion, Myoclonus, ... |
OMIM:617281 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Seizure, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Sa... |
ORPHA:95409 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Seizure, Hepatosplenomegaly, Self-mutilation, Anemia, Dystonia, Hemolytic anemia |
OMIM:619487 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Seizure, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia |
OMIM:617093 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Leukocytosis, Lung abscess, Anemia, Liver abscess |
ORPHA:67 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Seizure, Micrognathia, Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calcinosis, High pa... |
OMIM:617913 |
| Smith-Magenis Syndrome |
|
Abnormality of the dentition, Mandibular prognathia, Head-banging, Velopharyngeal insufficiency, ... |
OMIM:182290 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Seizure, Myoclonus, Elevated circulating creatine kinase concentration, Status e... |
OMIM:619055 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Seizure, Micrognathia, Narrow mouth, Hiatus hernia, Camptodactyly, High palate |
OMIM:617729 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613060 |
| Whipple Disease |
|
Polydipsia, Seizure, Myoclonus, Splenomegaly, Hyponatremia, Anorexia, Anemia |
ORPHA:3452 |
| Juvenile Absence Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:1941 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Downturned corners of mouth, Cleft upper lip, Seizure, Bruxism, Recurrent hand flapping, Smooth p... |
OMIM:613192 |
| Developmental And Epileptic Encephalopathy 8 |
|
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Exaggerated star... |
OMIM:300607 |
| Colchicine Poisoning |
|
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... |
ORPHA:31824 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Seizure, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulatin... |
OMIM:251880 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Joint contracture of the hand, Seizure, Micrognathia, Hiatus hernia, Dystonia, C... |
OMIM:251300 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... |
OMIM:604233 |
| Otodental Syndrome |
|
Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo... |
ORPHA:2791 |
| Legionnaires Disease |
|
Cellulitis, Lymphopenia, Splenomegaly, Hyponatremia, Anorexia |
ORPHA:549 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Seizure, Hand tremor, Hemolytic anemia, Hyperbi... |
OMIM:277900 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Flexion contracture, Hepatosplenomegaly |
ORPHA:367 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Seizure, Elevated circulating creatinine concentration, Leukoc... |
ORPHA:90038 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Long philtrum, Seizure, Tented upper lip vermilion, Tremor, Exaggerated start... |
OMIM:618056 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Myoclonus, Attention deficit hyperactivity disorder, Motor tics, Nocturnal seizur... |
OMIM:619725 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Seizure, Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hyponatremia... |
OMIM:610505 |
| Porphyria Variegata |
|
Seizure, Abnormal circulating porphyrin concentration, Hyponatremia, Scarring, Anemia |
ORPHA:79473 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Seizure, Macrodontia, Open mouth, Malar flattening, Tented upper lip ver... |
ORPHA:228402 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic anemia, Decreased circulating... |
ORPHA:37042 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) |
OMIM:300454 |
| Al Amyloidosis |
|
Hypoalbuminemia, Howell-Jolly bodies, Increased circulating NT-proBNP concentration, Anemia, Macr... |
ORPHA:85443 |
| Hyperekplexia 3 |
|
Hiatus hernia, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response |
OMIM:614618 |
| Hyperekplexia 1 |
|
Seizure, Umbilical hernia, Myoclonus, Inguinal hernia, Nocturnal seizures, Exaggerated startle re... |
OMIM:149400 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Denta... |
ORPHA:2457 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Seizure, Thick vermilion border, Open mouth, ... |
OMIM:620114 |
| Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Myoclonus, Status epilepticus, Exaggerated startle response |
OMIM:618201 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Febrile seizure (within the age range of 3 months to 6 years),... |
ORPHA:810 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Seizure, Exaggerated startle response, Dy... |
ORPHA:309246 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Bifid uvula, Long ... |
OMIM:222470 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Anorexia, Hypoglycemic seizures, Hyperkalemia |
ORPHA:361 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| East Syndrome |
|
Polydipsia, Seizure, Hypomagnesemia, Hyperaldosteronism, Generalized-onset seizure, Action tremor... |
ORPHA:199343 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... |
ORPHA:166108 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Seizure, Thick lower lip vermilion, Febrile seizure (within the age range of 3 months to 6 years)... |
OMIM:614104 |
| X-Linked Creatine Transporter Deficiency |
|
Seizure, Open mouth, Malar flattening, Self-mutilation, Hyperactivity, Abnormal circulating creat... |
ORPHA:52503 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Neutrophilia in presence of infection, Seizure, Elevated circulating creatinine ... |
ORPHA:99826 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:617924 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... |
OMIM:609800 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Smooth tongue, Atrophic scars, Oral mucosal blisters, Scarring, Enamel hypoplasi... |
ORPHA:79396 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Recurrent hand flapping, Myoclonus, A... |
OMIM:617600 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Seizure, Inappropriate laughter, Wide mouth, Polyphagia, Hyperactivity, Mandibular prognathia |
ORPHA:411515 |
| Sandhoff Disease, Infantile Form |
|
Myoclonic seizure, Seizure, Hepatosplenomegaly, Myoclonus, Bilateral tonic-clonic seizure, Exagge... |
ORPHA:309155 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Generalized non-motor (absence) seizure, Abnormal lymphocyte morphology, Recurrent sinusitis, Hyp... |
ORPHA:293978 |
| Addison Disease |
|
Normocytic anemia, Seizure, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia... |
ORPHA:85138 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Hyperly... |
OMIM:238700 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Seizure, Resting tremor, Tremor, Aggressive behavior, Hyperactivi... |
ORPHA:3077 |
| Hyperekplexia-Epilepsy Syndrome |
|
Generalized tonic seizure, Focal impaired awareness seizure, Exaggerated startle response |
ORPHA:163985 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Focal impaired awareness seizure, Status epilepticus, Generalized-onset seizure, Aggressive behav... |
OMIM:610042 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Myoclonic seizure, Hyperalaninemia |
OMIM:618329 |
| Cholera |
|
Seizure, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Seizure, Umbilical hernia, Gingival overgrowth, Narrow mouth, Increased overbite, Thin upper lip ... |
OMIM:616977 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Infant Botulism |
|
Hyponatremia, Dysphagia, Anorexia |
ORPHA:178478 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Hernia, Thrombocytopenia, Thick vermilion border... |
ORPHA:505248 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level |
OMIM:300200 |
| Amelocerebrohypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Seizure, Abnormal dental enamel morphology, Amelogenesis... |
ORPHA:1946 |
| Glass Syndrome |
|
Micrognathia, Narrow mouth, High palate, Restlessness, Pierre-Robin sequence, Inguinal hernia, Ol... |
OMIM:612313 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Myoclonic seizure, Focal impaired awareness seizure, Epileptic spasm, Recurrent hand flapping, Pr... |
OMIM:619580 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Seizure, Increased circulating renin level |
OMIM:619406 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:613090 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Seizure |
ORPHA:90790 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Polydipsia, Seizure, Elevated circulating creatinine concentration, Hypocalcemic te... |
ORPHA:411634 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Bulimia, Open mouth, Self-biting, Motor stereotypy, Downturned corners of mouth, Generalized non-... |
OMIM:300912 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Seizure, Widely spaced teeth, Protruding tongue, Bilateral tonic-clonic se... |
ORPHA:98795 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Seizure, Infantile spasms, Submucous cleft hard palate, Tonic seizure, Hyperactivity |
OMIM:619239 |
| Acute Intermittent Porphyria |
|
Seizure, Pseudobulbar paralysis, Tremor, Hyponatremia, Restlessness |
ORPHA:79276 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Typical absence seizure, Seizure, Myoclonus, Obsessive-compulsive trait, Focal... |
ORPHA:168491 |
| Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Polydipsia, Normochromic anemia |
ORPHA:95513 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Seizure, Joint contracture, Exaggerated startle response, Short philtrum, Mandibular prognathia, ... |
OMIM:617864 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Seizure, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating reni... |
OMIM:601198 |
| Holoprosencephaly |
|
Hypoplasia of the zygomatic bone, Seizure, Tooth agenesis, Abnormality of the spleen, Median clef... |
ORPHA:2162 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Seizure, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, Dyst... |
ORPHA:438216 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Seizure, Abnormal circulating biopterin concentration, Abnormal circulating ne... |
OMIM:612716 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Anemia, Hyperkalemia |
ORPHA:97362 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Self-injurious behavior, Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Th... |
OMIM:620075 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Seizure, Widely spaced teeth, Inappropriate laughter, Abnormal eating beha... |
ORPHA:98794 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, High, narrow palate, Subcutaneous lipoma, Narrow mouth, Anemia, Refractory anemia |
ORPHA:79076 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukopenia, Abnor... |
ORPHA:2298 |
| Adenylosuccinase Deficiency |
|
Long philtrum, Seizure, Inappropriate laughter, Myoclonus, Self-mutilation, Thin upper lip vermil... |
OMIM:103050 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Bifid uvula, Microretrognathia, Dental crowding, Microglossia, Long philtrum, Se... |
OMIM:270400 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Seizure, Myoclonus, Hypokalemia, Hyponatremia, Bilateral tonic-clonic seizure |
OMIM:618426 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Anemia, Hyp... |
ORPHA:275761 |
| Hyperekplexia 2 |
|
Hiatus hernia, Myoclonus, Exaggerated startle response |
OMIM:614619 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Focal myoclonic seizure, Seizure, Hyperaldosteronism, Hypokalemia, Bilateral tonic-cl... |
ORPHA:369929 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Seizure, Pancytopenia, Inguinal hernia, Hypocalcemia, Anemia, Unconjugated hyper... |
OMIM:613658 |
| Angelman Syndrome |
|
Self-injurious behavior, Mandibular prognathia, Seizure, Widely spaced teeth, Inappropriate laugh... |
ORPHA:72 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... |
ORPHA:186 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Myoclonus, Tongue thrusting, Limb tremor, Tortic... |
OMIM:608643 |
| Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia |
ORPHA:95512 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Kawasaki Disease |
|
Hypoalbuminemia, Strawberry tongue, Lip fissure, Leukocytosis, Thrombocytosis, Elevated circulati... |
ORPHA:2331 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Typical absence seizure, Seizure, Laryngeal dystonia, Myoclo... |
ORPHA:845 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... |
OMIM:617156 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:602522 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Seizure, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia,... |
ORPHA:544482 |
| Pituitary Apoplexy |
|
Hyponatremia, Increased circulating cortisol level, Normochromic anemia |
ORPHA:95613 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Myoclonic seizure, Decreased circulating renin level, Hypokalemia, Bilateral tonic-clonic seizure... |
OMIM:615474 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Polydipsia, Seizure, Hyperlipidemia, Hyponatremia, Polyphagia, Aggressiv... |
ORPHA:293987 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Long philtrum, Seizure, Generalized-onset seizure, Micrognathia... |
OMIM:617527 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati... |
ORPHA:89938 |
| Familial Dysautonomia |
|
Hyponatremia, Seizure |
ORPHA:1764 |
| Stiff-Person Syndrome |
|
Anemia, Opisthotonus, Myoclonic spasms, Exaggerated startle response |
OMIM:184850 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Seizure |
OMIM:618252 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Contractures of the large joints, Long philtrum, Seizure, Micrognathia, Tented upper lip vermilio... |
ORPHA:521426 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve... |
ORPHA:168558 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Retrognathia, Elbow flexion contracture, Hip contracture, Dysphagia, Exaggerated startle response... |
OMIM:617301 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve... |
ORPHA:289548 |
| Childhood Absence Epilepsy |
|
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... |
ORPHA:64280 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Lipodystrophy, Neutrophilia, Elevated... |
OMIM:617099 |
| Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia |
ORPHA:91355 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Seizure, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Intention tre... |
OMIM:612780 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology... |
ORPHA:760 |
| Psoriasis 14, Pustular |
|
Furrowed tongue, Leukocytosis, Geographic tongue, Neutrophilia, Elevated circulating C-reactive p... |
OMIM:614204 |
| Early Infantile Epileptic Encephalopathy |
|
Self-injurious behavior, Generalized non-motor (absence) seizure, Umbilical hernia, Seizure, Febr... |
ORPHA:1934 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Epilepsia partialis continua, Myoclonus, Hyperprolinemia, Hyperalaninemia, Bilateral tonic-clonic... |
OMIM:620451 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Bilateral tonic-clonic seizure |
OMIM:619278 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Mandibular prognathia, Seizure, Recurrent hand... |
ORPHA:449291 |
| Sandhoff Disease |
|
Myoclonic seizure, Hepatosplenomegaly, Bilateral tonic-clonic seizure, Exaggerated startle respon... |
OMIM:268800 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Hypophosphatemic ricke... |
OMIM:219800 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Umbilical hernia, Leukopenia, Hyperbilirubinemia, M... |
OMIM:619991 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Myoclonic seizure, Seizure, Exaggerated startle response |
OMIM:272750 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Self-injurious behavior, Narrow palate, Dental crowding, Long philtrum, Seizure, Generalized-onse... |
OMIM:616078 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
