| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Depression, Attention deficit hyperactivity disorder |
OMIM:613003 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Brunner Syndrome |
|
Low frustration tolerance, Impulsivity, Self-injurious behavior, Kinetic tremor, Aggressive behavior |
OMIM:300615 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizures |
ORPHA:199296 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Dystonia, Dysphagia, Impulsivity |
OMIM:620448 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... |
ORPHA:263458 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism |
OMIM:620126 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Incr... |
OMIM:610600 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism |
OMIM:620125 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased circulating cortisol level |
OMIM:614736 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... |
OMIM:615751 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... |
ORPHA:556037 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Glycine Encephalopathy 1 |
|
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior |
OMIM:605899 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... |
ORPHA:556030 |
| Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
| Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... |
ORPHA:3008 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level, Hyperaldosteronism |
OMIM:177735 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior |
OMIM:301107 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Hyperaldosteronism |
OMIM:264350 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Limb dystonia, Aggressive behavior |
OMIM:620270 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperammonemia, Increased C-peptide level, Hypoglycemia,... |
OMIM:620211 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Anorexia, Irritability, Abnormal fear-induced behavior, Resting tremor, Hyperactivity, Tremor, Ab... |
ORPHA:3077 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hypoglycemia, Hyperglycinemia, Hyperglycemia |
OMIM:620423 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:240900 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Phenylketonuria |
|
Irritability, Depression, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity di... |
OMIM:261600 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior |
ORPHA:382 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hyperaldosteronism |
OMIM:214700 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Glucocortocoid-insensitive primary... |
ORPHA:171876 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Tremor, Dystonia |
OMIM:615924 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics |
OMIM:619927 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:267700 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of l... |
OMIM:618718 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Diabetes mellitus |
OMIM:613845 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response |
ORPHA:309246 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hypoglycemic seizures, Ketotic hypoglycemia, Hyponatremia, Decreased circulating co... |
ORPHA:361 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased circulating cortisol level |
ORPHA:90790 |
| Juvenile Huntington Disease |
|
Depression, Irritability, Dystonia, Hyperactivity |
ORPHA:248111 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Postprandial hyperglycemia |
ORPHA:2089 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia |
ORPHA:682 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism |
OMIM:613090 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level |
OMIM:300200 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Glucocorticoid Deficiency 3 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:609197 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, T... |
ORPHA:199299 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin level, Hyponatremia, Decreased c... |
ORPHA:90791 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia |
ORPHA:173 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... |
OMIM:603553 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... |
OMIM:608643 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Decreased circulati... |
ORPHA:95409 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia, Neonatal insulin-dependent dia... |
ORPHA:1667 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:617053 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Increased circulating cortisol level |
ORPHA:95613 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia, Glycosuria |
ORPHA:97362 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Addison Disease |
|
Hyperkalemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Hyponatremia, Decre... |
ORPHA:85138 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Recurrent hypoglycemia |
ORPHA:293978 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
| Graves Disease |
|
Hyperactivity, Irritability, Polyphagia |
OMIM:275000 |
| Generalized Pustular Psoriasis |
|
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Glycosuria, Hypophosphatemia, Hypocalcemic... |
ORPHA:411634 |
| Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Recurrent hypoglycemia |
ORPHA:79324 |
| Whipple Disease |
|
Hyponatremia, Insulin resistance |
ORPHA:3452 |
| Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:95512 |
| Sheehan Syndrome |
|
Hyponatremia, Hypoglycemia, Decreased circulating cortisol level |
ORPHA:91355 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Irritability, Abnormal temper tantrums, Depression, Hyperactivity, Recurrent hand flapping, Motor... |
ORPHA:449291 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... |
ORPHA:289548 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hypoglycemia, Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:95513 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Hyperaldosteronism |
OMIM:602522 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... |
ORPHA:71212 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Depression, Exaggerated startle response |
OMIM:620114 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia |
ORPHA:275761 |
| Stiff-Person Syndrome |
|
Depression, Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia, Hype... |
ORPHA:89938 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Shigellosis |
|
Abnormal blood ion concentration, Hyponatremia, Hypoglycemia |
ORPHA:810 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response |
OMIM:616881 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Depression, Hyperactivity, Tremor, Dystonia, Choreoathetosis, Aggressive behavior |
OMIM:612716 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypocalcemia, Hyponatremia, Calcinosis, Hypokalemia |
OMIM:617913 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Hyponatremia, Increased circulating ferritin concentration, Hypoproteinemia |
ORPHA:167 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... |
OMIM:219800 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Agitation, Exaggerated startle response |
OMIM:618056 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
| Holoprosencephaly |
|
Hyponatremia, Hypoglycemia, Diabetes mellitus |
ORPHA:2162 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyperammonemia, Hyponatremia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyponatremia, Hyperkalemia, Diabetes mellitus |
ORPHA:544482 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Emotional lability, Hyperactivity, Impulsivity, Intention tremor, Dystonia, Dysphagia |
OMIM:610217 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Irritability, Exaggerated startle response |
OMIM:617864 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Hypochloremia, Hyponatremia, Decreased circulating cortisol ... |
ORPHA:90794 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperglycemia, Hyperlipidemia |
ORPHA:293987 |
| Tay-Sachs Disease |
|
Depression, Tremor, Laryngeal dystonia, Exaggerated startle response, Dystonia, Dysphagia, Mania |
ORPHA:845 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:424 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Liver Disease, Severe Congenital |
|
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... |
OMIM:619991 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyperkalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level, Hyponatremia, D... |
OMIM:201750 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Exaggerated startle response |
OMIM:617301 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Obsessive-compulsive trait, Depression, Hyperactivity, Tremor, Blepharospasm, Phonic tics, Dyston... |
OMIM:234200 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Asparagine Synthetase Deficiency |
|
Irritability, Tremor, Exaggerated startle response |
OMIM:615574 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Dysphagia, Exaggerated startle response |
OMIM:618367 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Dysphagia, Exaggerated startle response |
OMIM:617527 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response |
OMIM:619522 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Dysphagia, Exaggerated startle response, Stereotypical hand wringing |
ORPHA:438213 |
