Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
Autism, Susceptibility To, X-Linked 3 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:300425 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Autism, Susceptibility To, 8 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:607373 |
Autism |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:209850 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Obsessive-Compulsive Disorder |
|
Collectionism, Compulsive behaviors, Skin-picking, Depression |
OMIM:164230 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Autism, Susceptibility To, X-Linked 2 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:300495 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Autism, Susceptibility To, 3 |
|
Increased serum serotonin, Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adher... |
OMIM:608049 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia |
OMIM:238700 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... |
ORPHA:98764 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Manganese Poisoning |
|
Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Memory impairment, Irritabi... |
ORPHA:306682 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Reduced phenylalanine hydroxylase level, Elevated ... |
OMIM:261600 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... |
OMIM:239500 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
N-Acetylaspartate Deficiency |
|
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Hypertrophic cardiomyopathy, Ataxia, Aggressive behavior |
OMIM:620270 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... |
ORPHA:71529 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age, Increased serum serotonin |
ORPHA:85288 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Attention deficit hyperactivity disorder, Hypotension, Memory impairment, P... |
ORPHA:369873 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior, Dystonia |
ORPHA:382 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... |
OMIM:605899 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... |
OMIM:607454 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Dementia, Falls, Gait imbalan... |
ORPHA:240094 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin |
OMIM:617885 |
Perry Syndrome |
|
Akinesia, Frontotemporal dementia, Depression, Inappropriate behavior, Disinhibition, Short stepp... |
OMIM:168605 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, M... |
ORPHA:98818 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
Spinocerebellar Ataxia Type 21 |
|
Cognitive impairment, Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Hereditary Late-Onset Parkinson Disease |
|
Akinesia, Impulsivity, Depression, Dementia, Agitation, Shuffling gait, Low frustration tolerance... |
ORPHA:411602 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... |
ORPHA:309246 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Inguinal hernia, Aggressive behavior, Self-injurious behavior, Failure to thrive |
OMIM:618362 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Limb ataxia, Difficulty walking, Dysphagia, Jerky head movements, Spastic gait |
ORPHA:251282 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619470 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity, Ataxia |
OMIM:615924 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms |
OMIM:617830 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... |
OMIM:615516 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Ataxia |
ORPHA:71518 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Mental deterioration, Dementia, Akinesia, Aggressive behavior |
OMIM:300894 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435651 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Ataxia, Increased level of gamma-aminobuty... |
OMIM:271980 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Schizophrenia |
|
Social and occupational deterioration |
OMIM:181500 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Impulsivity, Akinesia, Neuromuscular dysphagia, Social and occupational deterioration, Falls, Gai... |
ORPHA:240071 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... |
ORPHA:79085 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia |
ORPHA:30925 |
Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circu... |
OMIM:608747 |
Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
Corticobasal Syndrome |
|
Memory impairment, Dementia, Gait disturbance, Akinesia |
ORPHA:454887 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon... |
OMIM:620141 |
Serotonin Syndrome |
|
Restlessness, Tachycardia, Confusion, Hypertension, Irritability, Agitation, Hypotension, Hepatic... |
ORPHA:43116 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Hyperi... |
ORPHA:363400 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Perry Syndrome |
|
Dementia, Hypotension, Depression |
ORPHA:178509 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Dysmetria, Gait ataxia, Dysphagia, Hypertension, Pollakisuria, Dementia, Gait disturbance... |
ORPHA:93256 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creati... |
OMIM:212138 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Ataxia |
ORPHA:79136 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysphagia, Memory im... |
ORPHA:247234 |
Kufor-Rakeb Syndrome |
|
Ataxia, Akinesia, Aggressive behavior, Dementia, Gait disturbance, Dysphagia |
OMIM:606693 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:619690 |
Mercury Poisoning |
|
Tachycardia, Confusion, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... |
ORPHA:94093 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, ... |
OMIM:620300 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania... |
ORPHA:449285 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
Huntington Disease-Like 1 |
|
Restlessness, Abnormal head movements, Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Je... |
ORPHA:157941 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Hypertension, Self-injuriou... |
ORPHA:449291 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Akinesia, Congestive heart failure... |
ORPHA:48818 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated creatine kinase after exercise, El... |
ORPHA:159 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Dementia, Disinhibition, Ad... |
ORPHA:43 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Confusion, Heart block, Elevated circulating creatini... |
ORPHA:542323 |
Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Anorexia |
ORPHA:178029 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ... |
OMIM:618917 |
Parkinson Disease 17 |
|
Akinesia |
OMIM:614203 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Akinesia |
OMIM:607598 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Epistaxis, Elevated circulating C-reactive protein co... |
ORPHA:91547 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Restlessness, Hyperactivity, Decreased HDL cholesterol concentrati... |
ORPHA:247585 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Heparan sulfate excreti... |
OMIM:252920 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Increased circulating lactate deh... |
ORPHA:35069 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Jerky head movements, Dysphagia |
ORPHA:240103 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Hyperactivity, Ataxia, Aggressive behavior... |
ORPHA:168491 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Progressive language deteriorati... |
ORPHA:163681 |
Lopes-Maciel-Rodan Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism |
OMIM:617435 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Dementia, Akinesia |
OMIM:616840 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... |
ORPHA:79155 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurre... |
OMIM:617600 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... |
ORPHA:556037 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms |
OMIM:617393 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Renal insuffic... |
ORPHA:31826 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Dementia, Gait disturb... |
OMIM:234200 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Postencephalitic Parkinsonism |
|
Depression, Abnormal aggressive, impulsive or violent behavior, Akinesia, Dysphagia |
ORPHA:97349 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... |
ORPHA:247815 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium |
OMIM:611489 |
Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Hypomagnesemia, V... |
OMIM:263800 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Ataxia, Proteinuria, Anorexia, Myocarditis, Jaun... |
ORPHA:549 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Akinesia |
OMIM:619911 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Foxg1 Syndrome |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism |
ORPHA:561854 |
Baker-Gordon Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... |
ORPHA:352490 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension, Renal salt wasting |
OMIM:264350 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... |
ORPHA:556030 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Hypothyroidism, Self-injurious behavior, Skin-picking, Abnorm... |
OMIM:600430 |
Nipah Virus Disease |
|
Hypotension, Anorexia |
ORPHA:99825 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hyperactivity, Atrial fibrillation, Congestive heart failure, Jaun... |
ORPHA:525731 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Anorexia, Irri... |
ORPHA:33475 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolem... |
ORPHA:427 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Hypotension, Prolonged neonatal jaundice |
ORPHA:199296 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bradyphrenia, Bundle branch block, Hyperactivity, Short attention span, First degree atrioventric... |
ORPHA:589821 |
Smith-Magenis Syndrome |
|
Hyperactivity, Abnormality of the thyroid gland, Self hugging, Head-banging, Onychotillomania, Ab... |
OMIM:182290 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Rett Syndrome |
|
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... |
ORPHA:778 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:620125 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Anorexia, Right ventricular failure, Mele... |
ORPHA:100080 |
Choreoacanthocytosis |
|
Compulsive behaviors, Loss of ambulation, Self-mutilation of tongue and lips due to involuntary m... |
ORPHA:2388 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r... |
OMIM:618342 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased response... |
OMIM:618347 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Oliguria, ... |
ORPHA:31824 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia |
OMIM:609454 |
Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
OMIM:617695 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Dysphagia, Moto... |
OMIM:252930 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Renal insufficiency, Confusion, Elevated circulating C-reac... |
ORPHA:319213 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Self-biting, Hypogonadism, Abnormal repet... |
ORPHA:3306 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Depression, Nephrocalcinosis, Hyperphosphatemia, Hypoca... |
ORPHA:428 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... |
ORPHA:98794 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Anorexia, Right ventricular failure, Hema... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Anorexia, Right ventricular failure, Hema... |
ORPHA:100082 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Ataxia, Jerky head movements |
OMIM:245348 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Irri... |
ORPHA:173 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing |
OMIM:614104 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
Lysosomal Acid Lipase Deficiency |
|
Psychomotor deterioration, Hyponatremia, Elevated hepatic transaminase, Hypertriglyceridemia, Hyp... |
ORPHA:275761 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
Huntington Disease-Like 3 |
|
Abnormal head movements, Progressive gait ataxia, Broad-based gait |
ORPHA:157946 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Ataxia, Anorexia, Hyperammonemia, Hypertension, Agitation, Hyperuricemia, Hypotension,... |
ORPHA:134 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Acute kidney injury, Ataxia, Confusion, Elevated circulating creatine kina... |
ORPHA:466650 |
Cutaneous Mastocytoma |
|
Elevated total serum tryptase, Telangiectasia of the skin, Hypotension, Telangiectasia macularis ... |
ORPHA:79455 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Ataxia, Myocardial infarction, Anorexia,... |
ORPHA:3452 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Confusion, Elevated circulating C-reactive protein concentration, Addictive alcohol use, H... |
ORPHA:36238 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:177735 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Abnormal repetitive mannerisms |
ORPHA:280763 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... |
OMIM:269700 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Inhalational Anthrax |
|
Confusion, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Elevated circulating alkaline phospha... |
ORPHA:98850 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Progressive neurologic deterioration, Akinesia, Dysphagia |
OMIM:608013 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Decreased circulating cortisol level, Confusion, Primary adr... |
ORPHA:139396 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dys... |
OMIM:610217 |
Poliomyelitis |
|
Confusion, Anorexia, Inability to walk, Hypertension, Hypovolemic shock, Irritability, Agitation,... |
ORPHA:2912 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium, Multilobulated spleen, Pu... |
OMIM:601186 |
Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia |
OMIM:601104 |
Christianson Syndrome |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia |
ORPHA:85278 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Hypotension, Arrhythmia, Abnormal renal... |
ORPHA:188 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Akinesia, Truncal ataxia |
OMIM:618249 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Potocki-Lupski Syndrome |
|
Hypothyroidism, Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
OMIM:610883 |
Dpagt1-Cdg |
|
Prolonged QT interval, Elevated hepatic transaminase, Ataxia, Akinesia, Aggressive behavior, Inab... |
ORPHA:86309 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Salt craving, Renal insufficiency, Hypercalcemia, Myocardi... |
ORPHA:95409 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Urinary incontinence, Neonatal hyperbilirubinemia, Urinary urgency, Urinary hesita... |
OMIM:609727 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Palpitations, Facial telangiectasia... |
ORPHA:97287 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Abnormal repetitive mannerisms |
OMIM:619877 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Anorexia, Right ventricular failure, Hema... |
ORPHA:100075 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Hyperlysinemia |
|
Short attention span, Hyperactivity, Abnormal circulating enzyme concentration or activity, Argin... |
ORPHA:2203 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Hyp... |
ORPHA:361 |
Xq28 (MECP2) duplication |
|
Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
Congenital Enterovirus Infection |
|
Myocarditis, Hepatitis, Hyperammonemia, Cardiomyopathy, Irritability, Hypoalbuminemia, Hypotensio... |
ORPHA:292 |
Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Central hypothyroidism, Stereotypical b... |
OMIM:300912 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia |
ORPHA:199343 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Renal insufficiency, Recurrent urinary tract infections, Confusion, Glomerulo... |
ORPHA:36234 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv... |
OMIM:300986 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms |
OMIM:619317 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Urinary incontinence, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive m... |
ORPHA:447997 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Orotica... |
OMIM:207800 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Ketonuria, Ataxia, Cardiac arrest, Anorexia, Jaundice, Dilated car... |
ORPHA:20 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Decreased response to growth hormone stimulation... |
ORPHA:457240 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Inc... |
ORPHA:244242 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Delayed puberty, Type I diabetes ... |
ORPHA:213 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
48,Xxyy Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal repetitive mannerisms, Type II diabetes mellitus, Attent... |
ORPHA:10 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec... |
OMIM:619580 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Abnormal repetitive mannerisms |
OMIM:619092 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... |
OMIM:614098 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:618430 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal repetitive mannerisms |
OMIM:613443 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Postural hypotension with compensatory tachycardia, Self-mutil... |
OMIM:256800 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Type I d... |
ORPHA:488618 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia |
OMIM:619147 |
Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism |
OMIM:618004 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen |
OMIM:602361 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:411986 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Ataxia, Confusion, Jaundice, H... |
ORPHA:90062 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Hypothyroidism, Pica, Obsessive-compulsive trait, Abnormal repetitive mannerisms |
OMIM:617796 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia |
ORPHA:99828 |
Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior |
OMIM:618914 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Renal insufficiency, Abnormality of the kidney, Impulsivity, Aggressive behavior, ... |
ORPHA:805 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Anorexia, Hyperkalemia, Hepatitis, Hyperuri... |
ORPHA:199299 |
22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Aplasia/Hypoplasia of t... |
ORPHA:1727 |
4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
Scrub Typhus |
|
Myocarditis, Renal insufficiency, Hypotension |
ORPHA:83317 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... |
ORPHA:100078 |
Developmental And Epileptic Encephalopathy 66 |
|
Abnormal repetitive mannerisms |
OMIM:618067 |
Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Ogden Syndrome |
|
Lethargy, Shuffling gait, Abnormal head movements |
ORPHA:276432 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... |
OMIM:617061 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Akinesia, Aggressive behavior, Myocarditis, Congestive heart failure,... |
ORPHA:3385 |
Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation, Oppositional... |
OMIM:123450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Dysphagia, Bruxism |
OMIM:300260 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Abnormal repetitive mannerisms |
ORPHA:500159 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Precocious puberty, Attention deficit hyperactivity disorder, D... |
OMIM:619312 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Hypoalbuminemia, Internal hemorrhag... |
ORPHA:99826 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Elevated total serum tryptase, Hypotension |
ORPHA:79456 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... |
OMIM:601678 |
Alexander Disease |
|
Ataxia, Sudden cardiac death, Depression, Hypertension, Self-injurious behavior, Gait disturbance... |
ORPHA:58 |
Chromosome 5P13 Duplication Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:613174 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin |
OMIM:614008 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:617751 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Abnormal repetitive mannerisms |
ORPHA:927 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Insulin-resistant diab... |
ORPHA:79474 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Sepsis In Premature Infants |
|
Tachycardia, Elevated circulating C-reactive protein concentration, Jaundice, Oliguria, Bradycard... |
ORPHA:90051 |
Pearson Syndrome |
|
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Bradycardia, Hypotension |
ORPHA:391673 |
Arthrogryposis Multiplex Congenita 5 |
|
Cardiac arrest, Akinesia |
OMIM:618947 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness |
OMIM:619293 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:819 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinary casts, Jaundice, Re... |
ORPHA:509 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Mirage Syndrome |
|
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Confusion, Hypotension |
ORPHA:95613 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Ritscher-Schinzel Syndrome 4 |
|
Impulsivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior |
OMIM:619435 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... |
OMIM:619103 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Snijders Blok-Campeau Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618205 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, H... |
ORPHA:90791 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Abnormal repetitive mannerisms |
OMIM:617807 |
Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Salt craving, Hypercalcemia, Anorexia, Renal salt wasting,... |
ORPHA:85138 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:617802 |
Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619121 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:619428 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Hypotension |
ORPHA:439822 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... |
OMIM:620330 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Legius Syndrome |
|
Short attention span, Hyperactivity, Paroxysmal atrial tachycardia, Nephrolithiasis, Male urethra... |
ORPHA:137605 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Abnormal repetitive mannerisms, Overfriendliness |
OMIM:616579 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repetitive mannerisms... |
OMIM:616364 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hypovolemia, Abnormal urine potassium concentration, Hyperkalem... |
ORPHA:168558 |
Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Tricuspid stenosis, Anorexia, Heart murmur, Palpitations, Hypotension |
ORPHA:100079 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Polydipsia |
ORPHA:369929 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hypovolemia, Abnormal urine potassium concentration, Hyperkalem... |
ORPHA:289548 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... |
ORPHA:476126 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Ataxia, Abnormal eating behavior, Abnormal drinking behavior, Choreoathetosis, Fal... |
ORPHA:209905 |
Hennekam-Beemer Syndrome |
|
Irritability, Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Dysdiadochokinesis, Salt craving, Ataxia |
OMIM:612780 |
Kleefstra Syndrome 1 |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior |
OMIM:212066 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms |
ORPHA:261144 |
Rett Syndrome, Congenital Variant |
|
Tongue thrusting, Abnormal repetitive mannerisms, Bruxism |
OMIM:613454 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
Phelan-Mcdermid Syndrome |
|
Tongue thrusting, Abnormal repetitive mannerisms, Aggressive behavior, Bruxism |
OMIM:606232 |
3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:435638 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia |
OMIM:304800 |
2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1001 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Short attention span, Nail-biting, Hyperactivity, Impulsivity, Chronic kidney disease, Syncope, A... |
ORPHA:642 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Hyperactivity, Hair-pulling, Bruxism, Vesicoureteral reflux, Recurrent pyeloneph... |
ORPHA:48652 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:300352 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
OMIM:615656 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Abnormal repetitive mannerisms |
ORPHA:2479 |
Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal repetitive mannerisms, Abnormal temper tantrums, Aggressive behavior |
ORPHA:457279 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
Bainbridge-Ropers Syndrome |
|
Precocious puberty, Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:615485 |
Den Hoed-De Boer-Voisin Syndrome |
|
Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing, Dysphagia |
OMIM:619229 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Elevated total serum tryptase, Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Inappropriate laughter |
OMIM:615802 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... |
ORPHA:468678 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:223 |
Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia |
ORPHA:845 |
Kleefstra Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior |
ORPHA:261494 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms |
OMIM:610688 |
Hereditary Angioedema Type 1 |
|
Hypotension, Dysphagia |
ORPHA:100050 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:261197 |
Sandifer Syndrome |
|
Abnormal head movements |
ORPHA:71272 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ... |
OMIM:619575 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:457351 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia |
ORPHA:3157 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal repetitive mannerisms |
ORPHA:300570 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting |
ORPHA:522077 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:496641 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... |
ORPHA:96121 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hyponatremia, Renal salt wasting, Long penis, Hypovolemia, Hyperkalemia, Elevated urinary ... |
ORPHA:90794 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Dyspha... |
ORPHA:319182 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response |
OMIM:253800 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:293978 |
Plague |
|
Tachycardia, Anorexia, Hematemesis, Unsteady gait, Depression, Hypotension, Arrhythmia, Delirium |
ORPHA:707 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... |
ORPHA:740 |
Developmental And Epileptic Encephalopathy 2 |
|
Abnormal repetitive mannerisms |
OMIM:300672 |
Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:610954 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
OMIM:619475 |
Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ... |
OMIM:619512 |
Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
Senior-Boichis Syndrome |
|
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder |
OMIM:619005 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... |
OMIM:615873 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Hypokalemia, Palpitations, H... |
ORPHA:91347 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia |
OMIM:239200 |
Van Esch-O'Driscoll Syndrome |
|
Hypogonadotropic hypogonadism, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
OMIM:301030 |
Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
Panhypophysitis |
|
Polydipsia |
ORPHA:95513 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:301066 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Abnormal repetitive mannerisms |
OMIM:301040 |
Erdheim-Chester Disease |
|
Polydipsia, Ataxia |
ORPHA:35687 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Diabetes insipidus, Self-injurious behavior, Abnormal circulating calcium-ph... |
ORPHA:534 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508533 |
Wolfram Syndrome |
|
Polydipsia, Ataxia |
ORPHA:3463 |
Kinsship Syndrome |
|
Abnormal repetitive mannerisms, Bruxism |
OMIM:619297 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Posterior pituitary hypoplasia, Abnormal repetitive mannerisms, Attention deficit hyperactivity d... |
ORPHA:464311 |
Oligomeganephronia |
|
Polydipsia |
ORPHA:2260 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Anterior pituitary hypoplasia |
ORPHA:464306 |
Developmental And Epileptic Encephalopathy 100 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:619777 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... |
ORPHA:580 |
Toxic Epidermal Necrolysis |
|
Polydipsia, Dysphagia |
ORPHA:537 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Jerky head movements |
ORPHA:369837 |
Rabson-Mendenhall Syndrome |
|
Polydipsia |
ORPHA:769 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:468631 |
Arima Syndrome |
|
Polydipsia, Ataxia |
OMIM:243910 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms, Pinea... |
ORPHA:513456 |
Hypomagnesemia 3, Renal |
|
Polydipsia |
OMIM:248250 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Infantile Nephropathic Cystinosis |
|
Polydipsia |
ORPHA:411629 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms |
OMIM:618653 |
Ogden Syndrome |
|
Abnormal repetitive mannerisms, Maternal diabetes, Dysphagia |
OMIM:300855 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:508498 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia |
ORPHA:293987 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:617330 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Dysphagia |
ORPHA:99880 |
Arboleda-Tham Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:616268 |
Parathyroid Carcinoma |
|
Polydipsia, Dysphagia |
ORPHA:143 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Polyphagia, Self-injurious behavior, Hypogonadism, Dysphagia, Abnormal repetitive... |
ORPHA:1606 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Polydipsia |
ORPHA:93111 |
Nmda Receptor Encephalitis |
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Neoplasm of the thymus, Hypersexuality, Agitation, Abnormal repetitive mannerisms |
ORPHA:217253 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hyperactivity, Abnormal repetitive mannerisms |
OMIM:309590 |
Distal Renal Tubular Acidosis |
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Polydipsia |
ORPHA:18 |
Juvenile Nephropathic Cystinosis |
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Polydipsia |
ORPHA:411634 |
Cystinosis, Nephropathic |
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Polydipsia, Dysphagia, Oral-pharyngeal dysphagia |
OMIM:219800 |
Primrose Syndrome |
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Restlessness, Diabetes mellitus, Hypergonadotropic hypogonadism, Aggressive behavior, Hypothyroid... |
OMIM:259050 |
Gitelman Syndrome |
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Polydipsia, Salt craving |
ORPHA:358 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Polydipsia |
OMIM:602522 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Precocious puberty, Abnormal repetitive mannerisms |
OMIM:616682 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:614756 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Abnormal repetitive mannerisms |
OMIM:301044 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
Coffin-Siris Syndrome 12 |
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Hypothyroidism, Abnormal repetitive mannerisms |
OMIM:619325 |
Norrie Disease |
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Diabetes mellitus, Self-injurious behavior, Attention deficit hyperactivity disorder, Delayed pub... |
ORPHA:649 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Dystonia |
ORPHA:438213 |
Proximal Renal Tubular Acidosis |
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Polydipsia |
ORPHA:47159 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Abnormal repetitive mannerisms |
OMIM:194190 |
Autosomal Recessive Polycystic Kidney Disease |
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Polydipsia |
ORPHA:731 |
Lowe Oculocerebrorenal Syndrome |
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Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
Non-Acquired Panhypopituitarism |
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Hypotension |
ORPHA:90695 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia |
OMIM:619522 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Hypotension |
ORPHA:95494 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Abnormal repetitive mannerisms, Dysphagia, Bruxism |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Abnormal repetitive mannerisms, Dysphagia, Bruxism |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Abnormal repetitive mannerisms, Dysphagia, Bruxism |
ORPHA:261552 |