| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Aggressive behavior, Hyperactivity |
OMIM:309548 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Autism, Susceptibility To, X-Linked 4 |
|
Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:300830 |
| Mental Retardation, Autosomal Dominant 52 |
|
Anxiety, Hyperactivity |
OMIM:617796 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Developmental And Epileptic Encephalopathy 56 |
|
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait |
OMIM:617665 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Abnormal C-peptide lev... |
ORPHA:263458 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia |
OMIM:610021 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
| Mental Retardation, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Gilles De La Tourette Syndrome |
|
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder |
OMIM:137580 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Irritability, Hyperactivity |
OMIM:616657 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:614736 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... |
ORPHA:293964 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Abnormal C-pepti... |
ORPHA:79299 |
| Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:306000 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Hyponatremia, Neonatal hypoglycemia |
ORPHA:199296 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity |
OMIM:618090 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder |
OMIM:619191 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
| Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-gl... |
ORPHA:3008 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine |
OMIM:300539 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia |
OMIM:262400 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia |
OMIM:232700 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Irritability, Abnormal fear/anxiet... |
ORPHA:3077 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Glycine Encephalopathy |
|
Lethargy, Irritability, Aggressive behavior, Hyperactivity |
OMIM:605899 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:300983 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... |
ORPHA:411593 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia |
OMIM:615158 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Tremor, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:612716 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Ataxia, Hyperactivity |
OMIM:239500 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Stiff Person Spectrum Disorder |
|
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety |
ORPHA:3198 |
| Neuroleptic Malignant Syndrome |
|
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Tremor, Ataxia, Hyperactivity |
OMIM:615924 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity |
OMIM:248510 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Aggressive behavior, Hyperactivity |
OMIM:604317 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritability, Hyperac... |
ORPHA:248111 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hy... |
ORPHA:35878 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
| Phenylketonuria |
|
Self-mutilation, Aggressive behavior, Irritability, Anxiety, Hyperactivity, Attention deficit hyp... |
OMIM:261600 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:618362 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Mental Retardation, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity |
OMIM:615541 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabetic ketoacidosis... |
OMIM:618858 |
| Fraxe Intellectual Disability |
|
Aggressive behavior, Hyperactivity |
ORPHA:100973 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anxiety, Aggressive behavior, Hyperactivity |
OMIM:300558 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
| Chromosome 3Q29 Deletion Syndrome |
|
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity |
OMIM:609425 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Diabetes mellitus, Hyponatremia, Hyperuricemia |
OMIM:613845 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity |
OMIM:301013 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Mental Retardation, Autosomal Dominant 43 |
|
Anxiety, Hyperactivity |
OMIM:616977 |
| Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
| Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis |
ORPHA:382 |
| Lennox-Gastaut Syndrome |
|
Falls, Aggressive behavior, Hyperactivity |
ORPHA:2382 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:214700 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia |
ORPHA:682 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Self-injurious behavior, Tremor, Hyperactivity |
OMIM:618718 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity |
OMIM:271980 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Aggressive behavior, Ataxia, Unste... |
ORPHA:228360 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Mental Retardation, Autosomal Recessive 38 |
|
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity |
OMIM:615516 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Hyponatremia, Abnormal glucose homeostasis |
ORPHA:391673 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas... |
OMIM:231100 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:171876 |
| Propionic Acidemia |
|
Hyperammonemia, Hypoglycemia |
ORPHA:35 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Elevated circulating sebacic acid concentration, Increased serum pyruvate, Elevat... |
OMIM:615160 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Anxiety, Abnormal fear/anxiety-related behavior, Exaggerated startle response |
ORPHA:309246 |
| Cholera |
|
Hypocalcemia, Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia |
ORPHA:173 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Landau-Kleffner Syndrome |
|
Gait ataxia, Aggressive behavior, Emotional lability, Anxiety, Hyperactivity, Steppage gait, Atte... |
ORPHA:98818 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:31824 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Aggressive behavior, Hyperactivity |
OMIM:618342 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Ketotic hypoglycemia, Hyponatremia, Hypoglycemic seizures |
ORPHA:361 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Happy demeanor |
ORPHA:411515 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... |
OMIM:262190 |
| Mpi-Cdg |
|
Hypoglycemia |
ORPHA:79319 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... |
OMIM:267700 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hyperactivity |
OMIM:274270 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
ORPHA:90790 |
| Ck Syndrome |
|
Irritability, Aggressive behavior, Hyperactivity |
ORPHA:251383 |
| Clark-Baraitser Syndrome |
|
Aggressive behavior, Hyperactivity |
OMIM:617752 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hypoalbuminemia, ... |
ORPHA:1667 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Aggressive behavior, Broad-based gait, Hyperactivity |
ORPHA:457260 |
| Mental Retardation, Autosomal Recessive 61 |
|
Aggressive behavior, Hyperactivity |
OMIM:617773 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:617053 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia |
OMIM:613090 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hypoglycemia, Type I diabetes mellitus, Hypercalcemia |
ORPHA:199299 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor |
OMIM:617865 |
| Ck Syndrome |
|
Irritability, Aggressive behavior, Hyperactivity |
OMIM:300831 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Increased circulating renin level |
ORPHA:90791 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Torticollis, Oculogyric crisis, Irritab... |
OMIM:608643 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Aggressive behavior, Hyperactivity |
OMIM:615824 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Aggressive behavior, Hyperactivity |
ORPHA:101039 |
| Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity |
OMIM:275000 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia |
OMIM:618183 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Hyperactivity |
ORPHA:500180 |
| Whipple Disease |
|
Hyponatremia, Insulin resistance |
ORPHA:3452 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypoglycemia, Hypercalcemia, Hype... |
ORPHA:95409 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... |
ORPHA:411634 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent hypoglycemia, Hyponatremia |
ORPHA:293978 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Aggressive behavior, Self-injurious behavior, Progressive cerebellar ataxia, Unsteady gait, Anxie... |
ORPHA:485350 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia |
OMIM:602522 |
| Myoclonic-Astatic Epilepsy |
|
Tremor, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit... |
ORPHA:1942 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia |
ORPHA:95613 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Aggressive behavior, Hyperactivity |
OMIM:615286 |
| Rasmussen Subacute Encephalitis |
|
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... |
ORPHA:1929 |
| Addison Disease |
|
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypoglycemia, Hypercalcemia, Type... |
ORPHA:85138 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... |
OMIM:603553 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Self-biting, Hyperactivity |
OMIM:618314 |
| Optic Atrophy 11 |
|
Dysmetria, Ataxia, Hyperactivity |
OMIM:617302 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Gait ataxia, Aggressive behavior, Hyperactivity, Mood swings |
OMIM:300354 |
| Adenylosuccinase Deficiency |
|
Self-mutilation, Inability to walk, Gait ataxia, Aggressive behavior, Opisthotonus, Hyperactivity... |
OMIM:103050 |
| Gm2-Gangliosidosis, Ab Variant |
|
Apathy, Dystonia, Exaggerated startle response |
OMIM:272750 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration |
ORPHA:810 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Aggressive behavior, Broad-based gait, Hyperactivity |
OMIM:300958 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Gait ataxia, Ataxia, Limb dystonia, Hyperactivity |
ORPHA:363400 |
| Tay-Sachs Disease |
|
Apathy, Exaggerated startle response |
OMIM:272800 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Intention tremor, Bradykinesia, Emotional lability, Dy... |
OMIM:610217 |
| Sheehan Syndrome |
|
Hyponatremia, Hypoglycemia |
ORPHA:91355 |
| Hepatocellular Carcinoma |
|
Hyperbilirubinemia, Hyponatremia, Hypoglycemia, Hypokalemia, Hypercalcemia, Hypoalbuminemia, Type... |
ORPHA:88673 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:369939 |
| Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ci... |
ORPHA:168558 |
| X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis |
ORPHA:52503 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response, Agoraphobia, Anxiety |
OMIM:184850 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hyperammonemia, Hypoglycemia |
OMIM:617049 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ci... |
ORPHA:289548 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Diabetes mellitus, Hypoglycemia, Glycosuria |
OMIM:616026 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Aggressive behavior, Hyperactivity |
ORPHA:391307 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:618504 |
| Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:600430 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Ataxia, Exaggerated startle response, Anxiety, Broad-based gait |
ORPHA:438216 |
| Mental Retardation, Autosomal Dominant 7 |
|
Hyperactivity, Gait disturbance, Ataxia, Happy demeanor |
OMIM:614104 |
| Holoprosencephaly |
|
Diabetes mellitus, Hyponatremia, Hypoglycemia |
ORPHA:2162 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... |
ORPHA:90038 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia |
OMIM:618838 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Ataxia, Hyperactivity |
OMIM:610042 |
| Symptomatic Form Of Fragile X Syndrome In Female Carrier |
|
Aggressive behavior, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, Attention def... |
ORPHA:449291 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... |
ORPHA:168491 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperammonemia, Hyperalaninemia, Hypoglycemia |
OMIM:615751 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait |
ORPHA:98794 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Ataxia, Emotional lability, Unsteady gait, Hyperactivity |
ORPHA:35069 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Ataxia, Hyperactivity |
ORPHA:228402 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia |
ORPHA:167 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hypocalcemia, Diabetes mellitus, Hyponatremia |
ORPHA:544482 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
| Chromosome 15Q25 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:614294 |
| Cystinosis, Nephropathic |
|
Decreased plasma carnitine, Hypophosphatemic rickets, Hyponatremia, Glycosuria, Diabetes mellitus |
OMIM:219800 |
| X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
ORPHA:43 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Increased circulating renin level, Hypokalemia, Hypochloremia, Hypomagnesemia |
ORPHA:89938 |
| Cri-Du-Chat Syndrome |
|
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... |
OMIM:123450 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Anxiety, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:618430 |
| Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
| Mucopolysaccharidosis, Type Iiib |
|
Aggressive behavior, Hyperactivity |
OMIM:252920 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |
| Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Ataxia, Hyperactivity |
OMIM:601853 |
| 16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder |
ORPHA:485405 |
| Glass Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor |
OMIM:612313 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity |
OMIM:300143 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hypokalemia |
ORPHA:534 |
| Tay-Sachs Disease |
|
Inability to walk, Dystonia, Tremor, Gait disturbance, Laryngeal dystonia, Exaggerated startle re... |
ORPHA:845 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia, Hyponatremia, Hyperlipidemia |
ORPHA:293987 |
| 13Q12.3 Microdeletion Syndrome |
|
Self-mutilation, Hyperactivity |
ORPHA:412035 |
| Angelman Syndrome |
|
Inability to walk, Tremor, Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperac... |
ORPHA:72 |
| Citrullinemia Type Ii |
|
Tremor, Lethargy, Aggressive behavior, Irritability, Hyperactivity |
ORPHA:247585 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability |
OMIM:309520 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Irritability, Mood swings |
ORPHA:525731 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Hypochloremia |
ORPHA:90794 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Self-mutilation, Hyperactivity, Emotional lability |
OMIM:256800 |
| Familial Gestational Hyperthyroidism |
|
Hand tremor, Hyperactivity |
ORPHA:99819 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Tremor, Aggressive behavior, Broad-based gait, Hyperactivity |
ORPHA:85293 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Angelman Syndrome |
|
Progressive gait ataxia, Limb tremor, Broad-based gait, Hyperactivity |
OMIM:105830 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Self-mutilation, Low frustration tolerance, Hyperactivity |
ORPHA:363686 |
| Choreoacanthocytosis |
|
Hair-pulling, Aggressive behavior, Apathy, Self-injurious behavior, Resting tremor, Blepharospasm... |
ORPHA:2388 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hand tremor, Hyperactivity |
ORPHA:424 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
| Primary Fanconi Renotubular Syndrome |
|
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... |
ORPHA:3337 |
| Argininemia |
|
Spastic gait, Irritability, Hyperactivity |
OMIM:207800 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
| Joubert Syndrome 1 |
|
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity |
OMIM:213300 |
| Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity |
OMIM:252900 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity |
ORPHA:139396 |
| Sandhoff Disease |
|
Exaggerated startle response, Ataxia |
OMIM:268800 |
| Cerebellar Ataxia, Nonprogressive, With Mental Retardation |
|
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity |
OMIM:614756 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Tremor, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity |
OMIM:234200 |
| 47,Xyy Syndrome |
|
Attention deficit hyperactivity disorder, Hyperactivity |
ORPHA:8 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Hyperlysinemia |
|
Tremor, Opisthotonus, Dysmetria, Hyperactivity, Tip-toe gait |
ORPHA:2203 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
| Brain-Lung-Thyroid Syndrome |
|
Dystonia, Ataxia, Falls, Intention tremor, Hyperactivity |
ORPHA:209905 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Hyperactivity |
ORPHA:760 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Wiedemann-Steiner Syndrome |
|
Anxiety, Low frustration tolerance, Aggressive behavior, Hyperactivity |
ORPHA:319182 |
| Early Infantile Epileptic Encephalopathy |
|
Tremor, Episodic ataxia, Dystonia, Self-injurious behavior, Hyperactivity |
ORPHA:1934 |
| 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 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hair-pulling, Irritability, Hyperactivity |
ORPHA:447997 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Tuberous Sclerosis Complex |
|
Aggressive behavior, Self-injurious behavior, Anxiety, Hyperactivity, Attention deficit hyperacti... |
ORPHA:805 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Hyperactivity |
ORPHA:642 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Inability to walk, Dystonia, Exaggerated startle response, Broad-based gait |
ORPHA:438213 |
