Familial Alzheimer-Like Prion Disease |
|
Depression, Emotional lability, Attention deficit hyperactivity disorder, Cognitive impairment, D... |
ORPHA:280397 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased ... |
ORPHA:71529 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... |
ORPHA:71526 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:171706 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... |
OMIM:240900 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy |
ORPHA:79084 |
Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... |
ORPHA:66624 |
Gilles De La Tourette Syndrome |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
OMIM:137580 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Hyperinsulinemia, Obesity |
OMIM:618406 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... |
OMIM:616033 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... |
ORPHA:324575 |
Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:329249 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... |
OMIM:606762 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... |
ORPHA:276580 |
Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Failure to thrive, Hypoglycemia |
OMIM:606528 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus |
OMIM:608320 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Obesity |
ORPHA:369873 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Obesity |
OMIM:103200 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... |
ORPHA:276575 |
Kleine-Levin Hibernation Syndrome |
|
Confusion, Polyphagia |
OMIM:148840 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity |
OMIM:617885 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... |
OMIM:614662 |
Mody |
|
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... |
ORPHA:552 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Inguinal hernia |
OMIM:300209 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... |
ORPHA:363400 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... |
ORPHA:2457 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia |
ORPHA:35878 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Adipose t... |
ORPHA:528 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Lipodystrophy, Diabetes mellitus, Abdominal obesity |
OMIM:615980 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... |
ORPHA:276556 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity |
ORPHA:85274 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Perlman Syndrome |
|
Tall stature, Hyperinsulinemia, Femoral hernia, Inguinal hernia |
ORPHA:2849 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... |
OMIM:151660 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Type II diabetes mellitus |
OMIM:615703 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... |
OMIM:246200 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... |
OMIM:608612 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, Obesity, Diabetes mellitus |
OMIM:615981 |
Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Lipodystrophy, Decreased serum leptin, Diabetic ketoacidosis |
OMIM:615238 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... |
OMIM:600955 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... |
ORPHA:2298 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Pancreatic isl... |
ORPHA:263455 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Mehmo Syndrome |
|
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... |
OMIM:300148 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... |
ORPHA:435651 |
Temple Syndrome |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Flexion contr... |
OMIM:616222 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... |
OMIM:274300 |
Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Failure to thrive, Truncal obesity |
ORPHA:261483 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
Mehmo Syndrome |
|
Obesity, Diabetes mellitus |
ORPHA:85282 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... |
ORPHA:785 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... |
OMIM:615363 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity |
OMIM:615993 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... |
OMIM:614963 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Temple Syndrome |
|
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... |
ORPHA:254516 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... |
OMIM:614450 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... |
OMIM:615830 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... |
OMIM:615954 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... |
OMIM:248370 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus |
OMIM:610628 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Umbilical hernia, Tall stature, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Lipodystro... |
OMIM:608594 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Obesity, Abnormality of the thyroid gland, Eunuchoid habitus, Type II diabetes mell... |
ORPHA:2234 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity |
ORPHA:480907 |
X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Subaortic Stenosis-Short Stature Syndrome |
|
Obesity, Type II diabetes mellitus, Inguinal hernia |
ORPHA:3191 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:88643 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... |
ORPHA:79086 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity |
OMIM:615982 |
Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus |
ORPHA:2377 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment |
ORPHA:309246 |
Summitt Syndrome |
|
Tall stature, Obesity, Camptodactyly of finger |
ORPHA:3210 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Failure to thrive, Hyperinsulinemia, Lipodystrophy, Flexion contracture |
OMIM:613327 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Delayed puberty |
OMIM:301900 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Neonatal hypoglycemia, Delayed puberty, Anterior hypopituitarism, Abdominal obesity |
ORPHA:631 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Umbilical hernia, Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous... |
OMIM:269700 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
Pseudopseudohypoparathyroidism |
|
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612463 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
48,Xxyy Syndrome |
|
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal her... |
ORPHA:10 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... |
OMIM:618363 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
OMIM:603233 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... |
OMIM:300888 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, Increased circulatin... |
OMIM:300869 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... |
OMIM:609734 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation |
ORPHA:100924 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Rafiq Syndrome |
|
Obesity, Flexion contracture, Truncal obesity |
OMIM:614202 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive |
ORPHA:79319 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Obesity, Umbilical hernia |
ORPHA:1035 |
Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Truncal obesity |
OMIM:620639 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:2233 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, Diabe... |
OMIM:270450 |
Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Truncal obesity |
ORPHA:3459 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hypothyroidism, Abnormality of the endocrine system, D... |
ORPHA:77296 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... |
ORPHA:769 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:352530 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Small for ges... |
ORPHA:96184 |
Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:94086 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity |
ORPHA:177910 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Hypogonadism, Obesity, Camptodactyly, Flexion contracture, Arthrogr... |
OMIM:615547 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism |
OMIM:619737 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Congenital hypothyroidism, Obesity, Diabetes mellitus |
OMIM:614613 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:791 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia, Obesity, Truncal obesity |
OMIM:615986 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
14Q11.2 Microduplication Syndrome |
|
Obesity, Hypothyroidism |
ORPHA:261229 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... |
OMIM:618160 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Obesity, Umbilical hernia |
ORPHA:171839 |
15Q24 Microdeletion Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Congenital dia... |
ORPHA:94065 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity |
OMIM:615996 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... |
OMIM:103580 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Urban-Rogers-Meyer Syndrome |
|
Hypogonadism, Obesity, Camptodactyly of finger, Flexion contracture of toe |
ORPHA:3409 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... |
OMIM:610489 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity, Glucose intolerance, Impaired glucose tolerance |
OMIM:615630 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight |
OMIM:614651 |
Chung-Jansen Syndrome |
|
Obesity |
OMIM:617991 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... |
ORPHA:98855 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:617127 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Abdominal obes... |
OMIM:219090 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight |
OMIM:617406 |
Laron Syndrome |
|
Truncal obesity, Abnormality of the endocrine system, Delayed puberty, Hypoglycemia |
ORPHA:633 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l... |
OMIM:615300 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the... |
ORPHA:280365 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hypogonadism, Flexion contracture of digit, Reduced subcutaneous adipose tissue, Truncal obesity |
ORPHA:3041 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... |
ORPHA:508 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Wrist flexion contracture, Obesity, Male hypogonadism, Flexion contracture |
OMIM:300055 |
Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Obesity |
ORPHA:464282 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Prader-Willi Syndrome |
|
Precocious puberty, Class III obesity, Failure to thrive in infancy, Decreased response to growth... |
OMIM:176270 |
Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:609583 |
13Q12.3 Microdeletion Syndrome |
|
Camptodactyly, Obesity, Congenital diaphragmatic hernia, Failure to thrive |
ORPHA:412035 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Failure to thrive |
OMIM:602579 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... |
ORPHA:98853 |
Congenital Analbuminemia |
|
Obesity, Lipodystrophy, Small for gestational age |
ORPHA:86816 |
Carpenter Syndrome |
|
Obesity, Umbilical hernia |
ORPHA:65759 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Type II diabetes mellitus |
OMIM:618620 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Obesity |
OMIM:300238 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
48,Xxxy Syndrome |
|
Hypogonadism, Abnormal dental enamel morphology, Obesity, Tall stature, Type II diabetes mellitus... |
ORPHA:96263 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Obesity |
OMIM:601794 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Narcolepsy Type 1 |
|
Precocious puberty, Obesity |
ORPHA:2073 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:363741 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Truncal obesity, Small for ges... |
ORPHA:73272 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Obesity, Hypothala... |
ORPHA:2235 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... |
OMIM:610475 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
Tatton-Brown-Rahman Syndrome |
|
Proportionate tall stature, Obesity, Neuroendocrine neoplasm, Umbilical hernia |
ORPHA:404443 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Central diabetes insipi... |
ORPHA:280195 |
Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... |
OMIM:203800 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism |
ORPHA:464288 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Truncal obesity, Umbilical hernia |
ORPHA:284180 |
Coach Syndrome 3 |
|
Anemia, Molar tooth sign on MRI |
OMIM:619113 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity |
OMIM:604360 |
Atypical Werner Syndrome |
|
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Fai... |
ORPHA:79474 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Microtriplication 11Q24.1 |
|
Obesity |
ORPHA:289522 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Tall stature, Obesity |
OMIM:620439 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Tall stature, Obesity |
OMIM:618089 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
Wagr Syndrome |
|
Obesity |
ORPHA:893 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Obesity, Achilles tendon contracture |
OMIM:615418 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity |
ORPHA:411515 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... |
OMIM:618849 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
6Q16 Microdeletion Syndrome |
|
Obesity |
ORPHA:171829 |
Clark-Baraitser syndrome |
|
Tall stature, Obesity |
OMIM:300602 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:98754 |
Joubert Syndrome 10 |
|
Obesity, Decreased body weight |
OMIM:300804 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure ... |
ORPHA:398079 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity |
OMIM:615812 |
Joubert Syndrome 33 |
|
Splenomegaly, Molar tooth sign on MRI |
OMIM:617767 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:98793 |
Cornelia De Lange Syndrome 5 |
|
Hypogonadism, Truncal obesity |
OMIM:300882 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... |
OMIM:168000 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:177904 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:177901 |
Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Obesity, Elevated circulating parathyroid hormone level |
ORPHA:439822 |
Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
Chromosome 2Q37 Deletion Syndrome |
|
Obesity, Hypothyroidism |
OMIM:600430 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Obesity, Hypothyroidism, Arthrogryposis multiplex congenita |
ORPHA:254346 |
Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... |
ORPHA:813 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Increased serum testosterone level |
ORPHA:247768 |
Septo-Optic Dysplasia Spectrum |
|
Obesity, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormality of the... |
ORPHA:3157 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Obesity |
OMIM:616629 |
X-Linked Intellectual Disability, Stevenson Type |
|
Tall stature, Obesity |
ORPHA:85325 |
Coach Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:619111 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:617562 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... |
OMIM:605373 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:617622 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypogonadism, Delayed puberty, Abdominal obesity |
OMIM:300354 |
Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Overweight, Diabetes mellitus |
ORPHA:69663 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Camptodactyly, Disproportionate tall stature, Abdominal obesity |
OMIM:301039 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Truncal obesity, Increased body mass index |
OMIM:300957 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hypogonadism, Obesity, Inguinal hernia, Cachexia |
ORPHA:85293 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypogonadism, Camptodactyly of toe, Truncal obesity |
ORPHA:127 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Carpenter Syndrome 1 |
|
Precocious puberty, Joint contracture of the hand, Umbilical hernia, Obesity, Omphalocele, Campto... |
OMIM:201000 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tall stature, Obesity |
OMIM:618430 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Dentinogenesis imperfecta, Type I diabetes mellitus, Obesity |
OMIM:619269 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Obesity, Failure to thrive |
OMIM:610543 |
Cushing Disease |
|
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... |
ORPHA:96253 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity |
OMIM:619056 |
Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
Joubert Syndrome 7 |
|
Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:611560 |
Smith-Magenis Syndrome |
|
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Delayed puberty |
ORPHA:819 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Inguinal hernia, Hypothyroidism, Truncal obesity, Diabetes mellitus |
OMIM:616541 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Molar tooth sign on MRI |
OMIM:608629 |
X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614815 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure to thrive, Hypogonadis... |
ORPHA:398069 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Obesity, Congenital diaphragmatic hernia, Failure to thrive |
ORPHA:261197 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI |
OMIM:614465 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Delayed puberty |
ORPHA:251004 |
2Q37 Microdeletion Syndrome |
|
Obesity, Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:1001 |
Keppen-Lubinsky Syndrome |
|
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... |
OMIM:614098 |
Ring Chromosome Y Syndrome |
|
Obesity, Streak ovary, Male hypogonadism |
ORPHA:261529 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Obesity, Inguinal hernia, Femoral hernia, Failure to thrive |
ORPHA:96147 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Obesity |
OMIM:620191 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI |
OMIM:617121 |
Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... |
ORPHA:54595 |
White-Sutton Syndrome |
|
Hypoglycemic seizures, Obesity, Congenital diaphragmatic hernia, Failure to thrive |
OMIM:616364 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
Joubert Syndrome 37 |
|
Obesity |
OMIM:619185 |
Bardet-Biedl Syndrome 1 |
|
Insulin resistance, Hypogonadism, Obesity, Nephrogenic diabetes insipidus, Truncal obesity, Abdom... |
OMIM:209900 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Obesity |
OMIM:619312 |
Slc35A2-Cdg |
|
Abnormal midbrain morphology, Precocious puberty, Elevated circulating thyroid-stimulating hormon... |
ORPHA:356961 |
Macrocephaly/Autism Syndrome |
|
Overgrowth, Obesity, Large for gestational age |
OMIM:605309 |
Peripartum Cardiomyopathy |
|
Obesity, Abnormality of thyroid physiology, Diabetes mellitus |
ORPHA:563 |
Aromatase Deficiency |
|
Insulin resistance, Tall stature, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hypergon... |
ORPHA:91 |
Adiposis Dolorosa |
|
Obesity, Hypothyroidism |
ORPHA:36397 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity, Streak ovary |
OMIM:194072 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity |
ORPHA:261222 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss, Congenital diaphragmatic hernia |
ORPHA:251071 |
Neuroblastoma |
|
Anemia, Elevated circulating catecholamine level, Thrombocytopenia |
ORPHA:635 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Obesity |
OMIM:615994 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Overweight, Obesity, Small for gestational age |
ORPHA:26793 |
Dysbetalipoproteinemia |
|
Obesity, Hypothyroidism, Diabetes mellitus |
ORPHA:412 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Decreased body weight |
ORPHA:589821 |
Momo Syndrome |
|
Tall stature, Obesity, Large for gestational age, Overgrowth |
ORPHA:2563 |
Atelis Syndrome 2 |
|
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:620185 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Elbow flexion contracture, Obesity, Hip contracture |
OMIM:618493 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:610688 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Obesity, Umbilical hernia, Inguinal hernia, Reduced circulating growth hormone concentration |
OMIM:620654 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... |
ORPHA:3464 |
Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
Den Hoed-De Boer-Voisin Syndrome |
|
Obesity, Decreased body weight, Amelogenesis imperfecta, Enamel hypoplasia, Overweight |
OMIM:619229 |
Monosomy 13Q34 |
|
Insulin resistance, Obesity |
ORPHA:96168 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, T... |
ORPHA:99413 |
Turner Syndrome |
|
Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, T... |
ORPHA:881 |
Mosaic Monosomy X |
|
Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, T... |
ORPHA:99228 |
Monosomy X |
|
Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, T... |
ORPHA:99226 |
Luscan-Lumish Syndrome |
|
Overgrowth, Obesity |
OMIM:616831 |
Man1B1-Cdg |
|
Truncal obesity |
ORPHA:397941 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... |
ORPHA:99889 |
Bloom Syndrome |
|
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... |
ORPHA:125 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Adrenocorticotropic hormone defic... |
OMIM:615926 |
Down Syndrome |
|
Umbilical hernia, Obesity, Type II diabetes mellitus, Delayed puberty, Hyperthyroidism |
ORPHA:870 |
Ulnar-Mammary Syndrome |
|
Hernia of the abdominal wall, Obesity, Delayed puberty, Camptodactyly of finger |
ORPHA:3138 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI |
OMIM:615665 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI |
OMIM:617757 |
Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
Nestor-Guillermo Progeria Syndrome |
|
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin |
OMIM:614008 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI |
OMIM:612285 |
Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79444 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
Kleefstra Syndrome |
|
Hernia, Obesity |
ORPHA:261494 |
Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology |
ORPHA:206448 |
White-Sutton Syndrome |
|
Ventral hernia, Obesity, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:468678 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Type II diabetes mellitus, Truncal obesity, Enamel hypoplasia |
OMIM:210720 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Molar tooth sign on MRI |
OMIM:618161 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity |
ORPHA:251038 |
Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Obesity, Hypoglycemia, Umbilical hernia |
OMIM:301066 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity |
OMIM:618443 |
Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Childhood-onset truncal obesity, Delayed p... |
OMIM:216550 |
Meningioma |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... |
ORPHA:2495 |
Fliedner-Zweier Syndrome |
|
Obesity |
OMIM:620511 |
Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Overgrowth, Obesity |
OMIM:620155 |
Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Obesity |
ORPHA:163681 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Obesity, Hypogonadotropic hypogonadism, D... |
ORPHA:478 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperthyroidism, Thyrotoxicosis... |
ORPHA:79102 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity |
OMIM:619680 |
Distal Deletion 12Q |
|
Pituitary adenoma, Maturity-onset diabetes of the young, Failure to thrive in infancy, Elbow flex... |
ORPHA:96149 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:79443 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
Japanese Encephalitis |
|
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology, Neu... |
ORPHA:79139 |
Steinert Myotonic Dystrophy |
|
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... |
ORPHA:273 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Inguinal hernia |
OMIM:614947 |
Achondroplasia |
|
Obesity |
ORPHA:15 |
Angelman Syndrome |
|
Delayed menarche, Obesity, Precocious puberty in females |
ORPHA:72 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Failure to thrive, Corneal scarring, Decreased resting energy expenditure, Achilles tendon contra... |
ORPHA:404454 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
Angelman Syndrome |
|
Obesity |
OMIM:105830 |
Gaisböck Syndrome |
|
Obesity, Overweight, Diabetes mellitus, Increased circulating renin level |
ORPHA:90041 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity |
ORPHA:98794 |
Cohen Syndrome |
|
Failure to thrive in infancy, Obesity, Delayed puberty |
ORPHA:193 |
Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
Kleefstra Syndrome 1 |
|
Obesity |
OMIM:610253 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
Beckwith-Wiedemann Syndrome |
|
Hypoglycemia, Umbilical hernia, Tall stature, Adrenocortical cytomegaly, Obesity, Large for gesta... |
ORPHA:116 |
Generalized Pustular Psoriasis |
|
Obesity, Overweight |
ORPHA:247353 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI |
OMIM:614615 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Hypogonadism, Obesity, Diabetes mellitus |
OMIM:614231 |
7Q11.23 Microduplication Syndrome |
|
Obesity, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:96121 |
Kabuki Syndrome |
|
Precocious puberty, Obesity, Congenital diaphragmatic hernia, Failure to thrive |
ORPHA:2322 |
Wagro Syndrome |
|
Obesity |
OMIM:612469 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity |
ORPHA:209902 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Inguinal hernia |
OMIM:618653 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal midbrain morphology, Increased red blood cell count, Abnormal medulla oblongata morpholo... |
ORPHA:68 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Obesity, Overweight |
ORPHA:2822 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Obesity, An... |
ORPHA:177907 |
Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Polycythemia, Adrenal pheochromocytoma, Pancreatic isle... |
ORPHA:892 |
Joubert Syndrome 2 |
|
Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cerebellar peduncle, Thicken... |
OMIM:608091 |
Carney Complex |
|
Euthyroid multinodular goiter, Precocious puberty, Follicular thyroid carcinoma, Increased circul... |
ORPHA:1359 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Obesity, Precocious puberty |
ORPHA:369837 |
Rett Syndrome |
|
Increased serum leptin, Failure to thrive |
ORPHA:778 |
Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Truncal obesity |
ORPHA:2637 |
Chops Syndrome |
|
Obesity |
OMIM:616368 |
Joubert Syndrome With Renal Defect |
|
Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:220497 |
Coach Syndrome 1 |
|
Splenomegaly, Molar tooth sign on MRI |
OMIM:216360 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... |
ORPHA:293987 |
Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI |
OMIM:614175 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Obesity, Failure to thrive |
ORPHA:369950 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Flexion contracture, Truncal obesity |
OMIM:301072 |
22Q11.2 Deletion Syndrome |
|
Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, Inguinal hernia,... |
ORPHA:567 |
Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
Joubert Syndrome 14 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:614424 |
Joubert Syndrome With Ocular Defect |
|
Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:220493 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Bardet-Biedl Syndrome 20 |
|
Obesity, Male hypogonadism |
OMIM:619471 |
Pmm2-Cdg |
|
Insulin resistance, Elevated circulating thyroid-stimulating hormone concentration, Failure to th... |
ORPHA:79318 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Obesity, Truncal obesity |
ORPHA:466950 |
Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
Helsmoortel-Van Der Aa Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Pineal cyst, T... |
OMIM:615873 |
Liver Disease, Severe Congenital |
|
Failure to thrive, Umbilical hernia, Inguinal hernia, Hyperinsulinemic hypoglycemia, Abnormal cir... |
OMIM:619991 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio... |
ORPHA:1435 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Obesity |
OMIM:616078 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Decreased serum testosterone concentration, Obesity, Streak ovary, Hypothyroidism, Delayed pubert... |
ORPHA:1772 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Agenesis of corpus callosum |
ORPHA:314621 |
Adnp Syndrome |
|
Inguinal hernia, Truncal obesity, Umbilical hernia |
ORPHA:404448 |
Joubert Syndrome 1 |
|
Brainstem dysplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Hypoplasia ... |
OMIM:213300 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... |
OMIM:619476 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Umbilical hernia, Obesity, Inguinal hernia, Parathyroid agenesis, Hypopla... |
OMIM:188400 |
Bardet-Biedl Syndrome |
|
Insulin resistance, Hypogonadism, Obesity, Impaired fasting glucose, Type II diabetes mellitus, C... |
ORPHA:110 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:619306 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity, Hypothyroidism |
ORPHA:444077 |
Myhre Syndrome |
|
Camptodactyly, Obesity, Small for gestational age |
OMIM:139210 |
White-Kernohan Syndrome |
|
Obesity, Hypothyroidism |
OMIM:619426 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
Alström Syndrome |
|
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... |
ORPHA:64 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem |
ORPHA:444072 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Colpocephaly, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Molar tooth s... |
ORPHA:397715 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Failure to thrive, Obesity, Decreased body weight, Delayed puberty, Overweight |
OMIM:619475 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Elbow flexion contracture, Obesity, Inguinal hernia, Delayed puberty... |
OMIM:181450 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI |
ORPHA:2318 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353281 |
Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI |
OMIM:611134 |
Monosomy 22Q13.3 |
|
Obesity, Umbilical hernia |
ORPHA:48652 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Type II diabetes mellitus, Congen... |
OMIM:613406 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity |
ORPHA:466943 |
1P36 Deletion Syndrome |
|
Failure to thrive, Camptodactyly of finger, Hypogonadism, Obesity, Hypothyroidism |
ORPHA:1606 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Hypoplasia of the ovary, Abdominal obesity |
OMIM:619321 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Pineal cyst, Truncal obesity |
ORPHA:529962 |
Williams-Beuren Syndrome |
|
Umbilical hernia, Failure to thrive in infancy, Obesity, Early onset of sexual maturation, Glucos... |
OMIM:194050 |
Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig... |
ORPHA:740 |
Arima Syndrome |
|
Anemia, Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:243910 |
Rubinstein-Taybi Syndrome 1 |
|
Keloids, Failure to thrive, Premature thelarche, Enamel hypoplasia, Truncal obesity, Flexion cont... |
OMIM:180849 |
Williams Syndrome |
|
Precocious puberty, Umbilical hernia, Failure to thrive in infancy, Abnormal dental enamel morpho... |
ORPHA:904 |
Carpenter Syndrome 2 |
|
Camptodactyly, Obesity, Knee flexion contracture, Umbilical hernia |
OMIM:614976 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Obesity, Failure to thrive, Pseudohypoparathyroidism |
OMIM:617157 |
1P21.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:293948 |
6Q Terminal Deletion Syndrome |
|
Obesity, Failure to thrive |
ORPHA:75857 |
Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Congenital hypothyroidism, Obesity, Hypothyroidism, Camptodactyly |
OMIM:607872 |
Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:277170 |
Primrose Syndrome |
|
Glucose intolerance, Hip contracture, Knee flexion contracture, Hypothyroidism, Delayed puberty, ... |
OMIM:259050 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Molar tooth sign on MRI |
OMIM:619479 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI |
OMIM:619562 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Corneal scarring, Obesity, Keloids, Failure to thrive |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Corneal scarring, Obesity, Keloids, Failure to thrive |
ORPHA:353277 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Truncal obesity |
OMIM:222700 |
Wilson Disease |
|
Face of the giant panda sign, Splenomegaly, Hypoparathyroidism, Thrombocytopenia, Anemia, Hemolyt... |
OMIM:277900 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Delayed puberty, Failure to thrive, Truncal obesity |
ORPHA:199 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity |
ORPHA:70591 |
Orofaciodigital Syndrome Type 6 |
|
Molar tooth sign on MRI |
ORPHA:2754 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem |
OMIM:616546 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Camptodactyly, Failure to thrive, Truncal obesity |
OMIM:612474 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Splenomegaly, Agenesis of corpus callosum, Adrenal hypoplasia, Molar tooth sign... |
OMIM:249000 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Molar tooth sign on MRI |
OMIM:616300 |
Joubert Syndrome 5 |
|
Thickened superior cerebellar peduncle, Molar tooth sign on MRI |
OMIM:610188 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hypogonadism, Obesity |
OMIM:309580 |
Pallister-Killian Syndrome |
|
Camptodactyly of 2nd-5th fingers, Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Ing... |
OMIM:601803 |
Orofaciodigital Syndrome Type 14 |
|
Partial agenesis of the corpus callosum, Molar tooth sign on MRI |
ORPHA:434179 |
Orofaciodigital Syndrome Xiv |
|
Partial agenesis of the corpus callosum, Molar tooth sign on MRI |
OMIM:615948 |