Severe Primary Trimethylaminuria |
|
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... |
ORPHA:468726 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Brunner Syndrome |
|
Kinetic tremor, Impulsivity, Aggressive behavior, Self-injurious behavior, Low frustration tolerance |
OMIM:300615 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Edema, Familial Idiopathic, Prepubertal |
|
Irritability, Diabetes mellitus |
OMIM:129840 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Emotional lability, Obesity |
OMIM:309585 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia |
OMIM:620270 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Po... |
OMIM:614963 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability |
ORPHA:3198 |
Adiposis Dolorosa |
|
Obesity, Depression |
OMIM:103200 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Agitation, Fasting hypogl... |
ORPHA:276608 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Re... |
ORPHA:324575 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Intellectual Developmental Disorder, X-Linked 108 |
|
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder |
OMIM:301024 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation,... |
ORPHA:276580 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation |
OMIM:616116 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Depression |
ORPHA:276630 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Polyphagia, Childhood-onset ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Polyphagia, Childhood-onset ... |
ORPHA:71526 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Failure to thrive, Ataxia |
OMIM:616881 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Abdominal obesity, Increased body weight, Depression |
OMIM:615954 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Diabetes mellitus, Small for gestational age, Increased body weight, Type II diabetes mellitus, A... |
OMIM:274300 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycem... |
ORPHA:276575 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Obesity, Choreoathetosis, Shuffling gait,... |
OMIM:300055 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity |
OMIM:614662 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Increased body weight, Hand tremor, Gait disturbance, Attention deficit hyperactivit... |
ORPHA:589905 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Emotional lability, Diabetes mellitus, Increased body weight, Depression |
OMIM:615830 |
Mehmo Syndrome |
|
Diabetes mellitus, Agitation, Obesity |
ORPHA:85282 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Tremor, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation |
ORPHA:457240 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Idiopathic Intracranial Hypertension |
|
Abnormal emotion, Obesity, Depression |
ORPHA:238624 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression |
OMIM:184850 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Overweight, Recurrent hand flapping, Pica, Tall stature |
OMIM:615032 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Morgagni-Stewart-Morel Syndrome |
|
Action tremor, Diabetes mellitus, Obesity, Depression |
ORPHA:77296 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi... |
ORPHA:97279 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:617885 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Tremor, Hyperinsulinemia, Increased body weight, Glycosuria, Agitation... |
ORPHA:263455 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... |
ORPHA:293964 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Emotional lability, Polyphagia |
ORPHA:179494 |
48,Xxyy Syndrome |
|
Ataxia, Tremor, Obesity, Depression, Type II diabetes mellitus, Attention deficit hyperactivity d... |
ORPHA:10 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response, Failure to thrive, Irritability |
OMIM:617864 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Temple Syndrome |
|
Small for gestational age, Obesity, Recurrent hypoglycemia, Type II diabetes mellitus, Polyphagia |
ORPHA:254516 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Low frustration tolerance, Abnormal temper t... |
ORPHA:163681 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Difficulty w... |
ORPHA:905 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Smith-Magenis Syndrome |
|
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... |
OMIM:182290 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:98794 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... |
ORPHA:411511 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Emotion... |
OMIM:612469 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance, Action tremor |
ORPHA:93952 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Broad-based gait, Increased body weight |
OMIM:614450 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Obesity |
OMIM:614613 |
48,Xxxy Syndrome |
|
Tremor, Obesity, Irritability, Type II diabetes mellitus, Attention deficit hyperactivity disorde... |
ORPHA:96263 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Obesity, Glucose intolerance, Abdominal obesity, Emotional lability |
OMIM:219090 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention deficit hyperactivity ... |
OMIM:619680 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetria, Depression, Gait di... |
ORPHA:845 |
Adrenocortical Carcinoma |
|
Irritability, Diabetes mellitus, Increased body weight, Weight loss |
ORPHA:1501 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Depression, Glucose intolerance, Abdominal obesity, Emotional lability, Mania |
ORPHA:189427 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polyphagia, Obesity |
ORPHA:66628 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Overgrowth |
OMIM:300607 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Limb tremor, Progressive gait ataxia, Paroxysma... |
OMIM:105830 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:2298 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Failure to thrive |
OMIM:618201 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Adiposis Dolorosa |
|
Obesity, Depression |
ORPHA:36397 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity, Hypoglycemic seizures |
OMIM:609734 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Sotos Syndrome |
|
Neonatal hypoglycemia, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowt... |
OMIM:117550 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Overweight, Inability to walk, Obesity, Gait disturbance, Dysphagia, Emotional lability |
ORPHA:2822 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Obesity, Dystonia |
OMIM:616267 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Asparagine Synthetase Deficiency |
|
Tremor, Irritability, Exaggerated startle response, Failure to thrive |
OMIM:615574 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Increased body weight, Abdominal obesity, Type II diabetes mellitus, Abnormal temper... |
ORPHA:398069 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Depression |
ORPHA:99832 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age |
OMIM:616026 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Failure to thrive, Dystonia |
ORPHA:521426 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity |
OMIM:618620 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Failure to thrive, Dysphagia |
OMIM:617527 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Cushing Disease |
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Diabetes mellitus, Impaired glucose tolerance, Increased body weight, Depression, Truncal obesity... |
ORPHA:96253 |
Cardiogenic Shock |
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Elevated circulating creatinine concentration |
ORPHA:97292 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Elevated circulating creatinine concentration |
OMIM:617478 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Sandhoff Disease |
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Exaggerated startle response, Ataxia |
OMIM:268800 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... |
ORPHA:353281 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Hemorrhagic Fever-Renal Syndrome |
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Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Recurrent hypoglycemia, Fasting hypoglycemia, Increased body weight, Ketotic hypoglycemia |
ORPHA:79240 |
Marburg Hemorrhagic Fever |
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Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Renal Cysts And Diabetes Syndrome |
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Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Failure to thrive, Hypoglycemia, Increased body weight, Fasting hypoglycemia |
ORPHA:264580 |
Pauci-Immune Glomerulonephritis |
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Elevated circulating creatinine concentration |
ORPHA:93126 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia |
ORPHA:79255 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Diabetes mellitus, Impaired glucose tolerance, Anorexia, Increased body weight, Weight loss, Depr... |
ORPHA:99889 |
Igg4-Related Kidney Disease |
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Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... |
ORPHA:353277 |
Yellow Fever |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Stereotyp... |
ORPHA:438213 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Carney Complex |
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Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |