Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Insulin resistance |
ORPHA:140941 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity |
OMIM:614662 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology |
ORPHA:2398 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Fatty replacement of skeletal muscle, Obes... |
ORPHA:171706 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... |
ORPHA:71529 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Insulin resistance, Myopathy, Abdomina... |
OMIM:615980 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity |
OMIM:615703 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age |
OMIM:256450 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Ch... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Ch... |
ORPHA:71526 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Skeletal mus... |
OMIM:613877 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Overgrowth, Obesity |
OMIM:620195 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia |
ORPHA:79084 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity |
OMIM:617885 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Acquired Partial Lipodystrophy |
|
Myopathy, Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera... |
OMIM:612526 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... |
ORPHA:293964 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Lipodystro... |
ORPHA:435660 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity |
OMIM:615981 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Obesity |
OMIM:614845 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, Hyperinsulinemia, Skel... |
ORPHA:528 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Elevated hepatic transaminase, Diabetes mellitus, L... |
OMIM:615381 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Mehmo Syndrome |
|
Diabetes mellitus, Obesity |
ORPHA:85282 |
Retinitis Pigmentosa |
|
Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia, Obesity |
ORPHA:791 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Insulin resistance, Lipodystrophy |
ORPHA:79085 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... |
ORPHA:363400 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Keloids, Hyperinsulinemia, Obesity |
ORPHA:3085 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... |
ORPHA:324575 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Mehmo Syndrome |
|
Small for gestational age, Obesity, Hypoglycemia |
OMIM:300148 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Diabetes mellitus, L... |
ORPHA:79083 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli... |
ORPHA:276608 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... |
OMIM:608600 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Insu... |
ORPHA:2348 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Overgrowth, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive |
ORPHA:261483 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Increased body weight, Increased proinsuli... |
ORPHA:94086 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
Temple Syndrome |
|
Type II diabetes mellitus, Recurrent hypoglycemia, Small for gestational age, Obesity |
ORPHA:254516 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Obesity |
OMIM:610628 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Flexion contracture,... |
OMIM:616222 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Obesity |
OMIM:614963 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... |
OMIM:214150 |
Bardet-Biedl Syndrome 16 |
|
Obesity |
OMIM:615993 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive |
ORPHA:73272 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Obesity |
ORPHA:2377 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Jaundice, Increased body weight |
ORPHA:890 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Type II diabetes mellitus, Obesity |
ORPHA:2234 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Insulin resistance, Absen... |
OMIM:269880 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Bardet-Biedl Syndrome 21 |
|
Elevated hepatic transaminase, Overweight, Obesity |
OMIM:617406 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac... |
ORPHA:98855 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hy... |
ORPHA:276580 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:2298 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Obesity, Muscular dystrophy |
ORPHA:459033 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Summitt Syndrome |
|
Camptodactyly of finger, Tall stature, Obesity |
ORPHA:3210 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Lipodystrophy, Centrally nucleated skeletal muscle fibers, Insulin... |
OMIM:613327 |
Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Inguinal hernia, Obesity |
ORPHA:3191 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Hepatic failure, Impaired glucose tolerance, Obesity |
OMIM:615630 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac... |
ORPHA:98863 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac... |
ORPHA:261 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac... |
ORPHA:98853 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Overweight, Intrahepatic cholestasis, Obesity, ... |
ORPHA:69663 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Diabetes mellitus, Small for gestational age, Increased body weight |
OMIM:274300 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Hyperglycemia, Obesity |
OMIM:615986 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Leptin Deficiency Or Dysfunction |
|
Obesity |
OMIM:614962 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Macroglossia, Increased body weight |
OMIM:614450 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity |
OMIM:301900 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity |
OMIM:618620 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperin... |
ORPHA:276575 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity |
ORPHA:480907 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... |
OMIM:615418 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Lower limb muscle weakness, Obesity |
OMIM:619737 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity, Foot dorsiflexor weakness |
OMIM:618124 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... |
OMIM:618363 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Large for gestational age, Hyperinsulinemia, Increased body weight... |
ORPHA:263455 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy |
OMIM:604360 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight |
OMIM:620065 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Truncal obesity, Small for gestational age, Obesity, Maturity-onset diabetes of the young |
ORPHA:96184 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recur... |
ORPHA:813 |
Werner Syndrome |
|
Skeletal muscle atrophy, Lipoatrophy, Lipodystrophy, Insulin resistance, Type II diabetes mellitu... |
ORPHA:902 |
Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight, Hyperglycemia |
OMIM:615954 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Dorsocervical fat pad, Increased body weight |
OMIM:615830 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:2233 |
Rafiq Syndrome |
|
Truncal obesity, Flexion contracture, Obesity |
OMIM:614202 |
48,Xxyy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Tall stature |
ORPHA:10 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Obesity |
OMIM:614613 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity |
ORPHA:66628 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Obesity |
ORPHA:77296 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia |
OMIM:615812 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Obesity |
ORPHA:1035 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity |
ORPHA:2183 |
Bdv Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Obesity |
OMIM:619326 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance |
ORPHA:90301 |
Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity |
ORPHA:177910 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity |
ORPHA:179494 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsu... |
ORPHA:79086 |
Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
Seckel Syndrome 10 |
|
Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate aminotransferase co... |
OMIM:617253 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity |
OMIM:612463 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity |
ORPHA:352530 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypoglycemia, Large for gestational age, Elevat... |
OMIM:616026 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity |
OMIM:618160 |
Chung-Jansen Syndrome |
|
Obesity |
OMIM:617991 |
Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Large for gestational age |
ORPHA:45452 |
Aromatase Deficiency |
|
Eunuchoid habitus, Insulin resistance, Obesity, Type II diabetes mellitus, Tall stature |
ORPHA:91 |
Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity |
ORPHA:254525 |
Shox-Related Short Stature |
|
Skeletal muscle hypertrophy, Obesity |
ORPHA:314795 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Truncal obesity, Inguinal hernia, Diabetes mellitus |
OMIM:616541 |
Monosomy 13Q34 |
|
Insulin resistance, Obesity |
ORPHA:96168 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
Wilson-Turner Syndrome |
|
Truncal obesity |
ORPHA:3459 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
Laron Syndrome |
|
Truncal obesity, Hypoglycemia |
ORPHA:633 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... |
ORPHA:486815 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Impaired glucose tolerance, Obesity, Glucose intolerance, Abdominal obesity |
OMIM:219090 |
Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
14Q11.2 Microduplication Syndrome |
|
Obesity |
ORPHA:261229 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
Wagr Syndrome |
|
Obesity |
ORPHA:893 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Diabetes mellitus, Hand muscle weakness, Fatty replacement of skel... |
ORPHA:98908 |
Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... |
ORPHA:97279 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Obesity, Hypomimic face |
ORPHA:93952 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Flexion contracture, Obesity, Camptodactyly, Arthrogryposis multipl... |
OMIM:615547 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity |
ORPHA:411515 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Obesity |
ORPHA:464282 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
Clark-Baraitser syndrome |
|
Obesity, Tall stature |
OMIM:300602 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:171839 |
X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
6Q16 Microdeletion Syndrome |
|
Obesity |
ORPHA:171829 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Hypoglycemic seizures |
OMIM:609734 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Obesity, Hernia, Failure to thrive |
ORPHA:94065 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Insulin-resistant diabetes mellitus,... |
ORPHA:435651 |
Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Insulin resistance, Obesity, Truncal obesity, Abdominal obesity, Left ventricu... |
OMIM:209900 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Diastasis recti, Large for gestational age, Overgrowth, U... |
ORPHA:254534 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Truncal obesity, Decreased... |
OMIM:270450 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618089 |
Urban-Rogers-Meyer Syndrome |
|
Flexion contracture of toe, Camptodactyly of finger, Obesity |
ORPHA:3409 |
Wilson Disease |
|
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Hepatitis, Increased body weight,... |
ORPHA:905 |
Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age |
OMIM:618272 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Small for gestational age |
OMIM:300869 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Small for gestational age, Overwe... |
ORPHA:26793 |
Microtriplication 11Q24.1 |
|
Obesity |
ORPHA:289522 |
Carpenter Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:65759 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Facial hypotonia, Flexion contracture, Wrist flexion contracture, Obesity |
OMIM:300055 |
Xp22.13P22.2 Duplication Syndrome |
|
Umbilical hernia, Truncal obesity, Congenital diaphragmatic hernia |
ORPHA:284180 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Obesity |
ORPHA:3077 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... |
ORPHA:769 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Tall stature |
ORPHA:96263 |
Bloom Syndrome |
|
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... |
ORPHA:125 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Truncal obesity, Decreased muscle mass, Flexion contracture ... |
ORPHA:3041 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Insulin resistance, Generalized lipodystrophy |
ORPHA:90154 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity |
OMIM:610543 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Truncal obesity |
OMIM:300957 |
Whipple Disease |
|
Insulin resistance, Myositis, Cachexia |
ORPHA:3452 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Skeletal mu... |
ORPHA:79240 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity |
OMIM:619056 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Neonatal hypoglycemia, Large for gestation... |
ORPHA:79644 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Obesity |
ORPHA:86816 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Down Syndrome |
|
Macroglossia, Umbilical hernia, Type II diabetes mellitus, Obesity |
ORPHA:870 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Macroglossia, Abdominal obesity |
OMIM:300354 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618430 |
Senior-Loken Syndrome 9 |
|
Obesity |
OMIM:616629 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Obesity |
ORPHA:464288 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Increased body weight, Proximal amyotrophy, Glucose intolerance, Abdominal... |
ORPHA:189427 |
Cornelia De Lange Syndrome 5 |
|
Truncal obesity |
OMIM:300882 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Disproportionate tall stature, Abdominal obesity, Camptodactyly |
OMIM:301039 |
Septo-Optic Dysplasia Spectrum |
|
Obesity, Maternal diabetes |
ORPHA:3157 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity |
ORPHA:261222 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Facial hypotonia, Obesity, Decreased body weight |
ORPHA:589821 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
Chromosome 2Q37 Deletion Syndrome |
|
Obesity |
OMIM:600430 |
Joubert Syndrome 8 |
|
Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Obesity, Myopathy, Shoulder girdle muscle weakness, Increased intr... |
ORPHA:98907 |
Macrocephaly/Autism Syndrome |
|
Overgrowth, Obesity, Large for gestational age |
OMIM:605309 |
Joubert Syndrome 37 |
|
Obesity |
OMIM:619185 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... |
ORPHA:169189 |
Dysbetalipoproteinemia |
|
Tendon xanthomatosis, Diabetes mellitus, Obesity |
ORPHA:412 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Chronic active hepatitis, Insulin-resistant diabetes mellitus, Hyp... |
OMIM:203800 |
Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Proportionate tall stature, Obesity |
ORPHA:404443 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Truncal obesity, Skeletal muscle atrophy |
ORPHA:127 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Obesity |
OMIM:620191 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Skeletal mu... |
ORPHA:264580 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Insulin resistance, Hyperinsulinemi... |
ORPHA:508 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Small for gestational age, Insulin resistance, Fasting hypoglycemia, Failu... |
ORPHA:96182 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Obesity |
OMIM:615300 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Macroglossia, Umbilical hernia, Large for gestational age, Prolonged neonatal jaundice |
ORPHA:226313 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Obesity |
ORPHA:110 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity |
OMIM:194072 |
Luscan-Lumish Syndrome |
|
Overgrowth, Obesity |
OMIM:616831 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Type II diabetes mellitus |
ORPHA:401923 |
Peripartum Cardiomyopathy |
|
Left ventricular hypertrophy, Diabetes mellitus, Obesity |
ORPHA:563 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Congenital diaphragmatic hernia |
ORPHA:261197 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity |
OMIM:619269 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Femoral hernia, Obesity, Macroglossia, Failure to thrive |
ORPHA:96147 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Obesity |
OMIM:612462 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Momo Syndrome |
|
Overgrowth, Obesity, Tall stature, Large for gestational age |
ORPHA:2563 |
19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Obesity |
ORPHA:254346 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Overweight, Obesity |
ORPHA:247353 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Type II diabetes mellitus, Abdominal obesity, Failure to thrive, Obesity |
ORPHA:398079 |
Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Obesity |
OMIM:103580 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia, Obesity, Hypoglycemic seizures, Failure to thrive |
OMIM:616364 |
Gitelman Syndrome |
|
Maternal diabetes, Insulin resistance, Rhabdomyolysis, Glucose intolerance, Diabetic ketoacidosis... |
ORPHA:358 |
2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Obesity, Congenital diaphragmatic hernia |
ORPHA:1001 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Obesity |
OMIM:619680 |
Ring Chromosome Y Syndrome |
|
Obesity |
ORPHA:261529 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lower limb hypertonia, Obesity, Limb hypertonia |
OMIM:617296 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture |
ORPHA:90153 |
Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:439822 |
Adiposis Dolorosa |
|
Obesity |
ORPHA:36397 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity |
ORPHA:85293 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Congenital diaphragmatic hernia, Weight loss |
ORPHA:251071 |
Man1B1-Cdg |
|
Truncal obesity |
ORPHA:397941 |
Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
Carpenter Syndrome 1 |
|
Omphalocele, Obesity, Camptodactyly, Umbilical hernia, Joint contracture of the hand |
OMIM:201000 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Elbow flexion contracture, Obesity |
OMIM:618493 |
Sotos Syndrome |
|
Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Prolonged neonatal jaundice... |
OMIM:117550 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Obesity |
ORPHA:819 |
Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Jaundice, Diabetes mellitus, Obesity |
OMIM:614231 |
Bardet-Biedl Syndrome 17 |
|
Obesity |
OMIM:615994 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity |
ORPHA:247768 |
Radio-Tartaglia Syndrome |
|
Obesity |
OMIM:619312 |
Angelman Syndrome |
|
Macroglossia, Obesity |
OMIM:105830 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Skeletal muscle atrophy |
OMIM:219080 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity, Generalized limb muscle atrophy, Distal amyotrophy, Lower limb muscle weakness |
ORPHA:2822 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Obesity |
ORPHA:209902 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
Rabin-Pappas Syndrome |
|
Overgrowth, Obesity, Failure to thrive in infancy |
OMIM:620155 |
Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Abdominal obesity... |
OMIM:176270 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:251004 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Kleefstra Syndrome 1 |
|
Macroglossia, Obesity |
OMIM:610253 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity |
ORPHA:251038 |
Adrenocortical Carcinoma |
|
Diabetes mellitus, Increased body weight, Weight loss |
ORPHA:1501 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... |
ORPHA:79102 |
Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Decreased body weight, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:619229 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity |
OMIM:618443 |
White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Obesity |
ORPHA:468678 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity |
ORPHA:98754 |
Cohen Syndrome |
|
Small for gestational age, Facial hypotonia, Childhood-onset truncal obesity |
OMIM:216550 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mellitus, Failure... |
ORPHA:398069 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity |
ORPHA:98793 |
Achondroplasia |
|
Obesity |
ORPHA:15 |
Kleefstra Syndrome |
|
Macroglossia, Obesity, Hernia |
ORPHA:261494 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity |
ORPHA:177904 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity |
ORPHA:98794 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Failure to thrive, Small for gestational age, Obesity |
ORPHA:177901 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity |
ORPHA:2235 |
Ulnar-Mammary Syndrome |
|
Aplasia of the pectoralis major muscle, Hernia of the abdominal wall, Camptodactyly of finger, Ob... |
ORPHA:3138 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus |
OMIM:210720 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Obesity |
ORPHA:163681 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Limb joint contracture, Flexion contracture, Truncal obesity, Lower limb... |
OMIM:301072 |
Gaisböck Syndrome |
|
Overweight, Diabetes mellitus, Obesity |
ORPHA:90041 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Diabetes mellitus, Abnormality of the ton... |
ORPHA:273 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Umbilical hernia, Hypoglycemia, Obesity |
OMIM:301066 |
Distal Deletion 12Q |
|
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Elbow flex... |
ORPHA:96149 |
Craniopharyngioma |
|
Type II diabetes mellitus, Obesity |
ORPHA:54595 |
Cushing Disease |
|
Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Increased body weight, Prox... |
ORPHA:96253 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Truncal obesity |
OMIM:610475 |
Wagro Syndrome |
|
Obesity |
OMIM:612469 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Obesity |
OMIM:619471 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Sheehan Syndrome |
|
Hypoglycemia, Obesity |
ORPHA:91355 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Obesity |
OMIM:614947 |
Webb-Dattani Syndrome |
|
Obesity |
OMIM:615926 |
Angelman Syndrome |
|
Obesity |
ORPHA:72 |
Cohen Syndrome |
|
Failure to thrive in infancy, Obesity |
ORPHA:193 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Hypoglycemia, Diastasis recti, Congenital diaphragmatic hernia, Lar... |
ORPHA:116 |
Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
Perlman Syndrome |
|
Hypoplasia of the abdominal wall musculature, Hypoglycemia, Congenital diaphragmatic hernia, Larg... |
OMIM:267000 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low alkaline phosphatase, Obesity |
ORPHA:369837 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Abdominal obesity, Failure to thrive |
ORPHA:739 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity |
OMIM:610489 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Enamel hypoplasia, Obesity |
ORPHA:79444 |
Chops Syndrome |
|
Obesity |
OMIM:616368 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Obesity, Congenital diaphragmatic hernia |
ORPHA:96121 |
Joubert Syndrome 39 |
|
Overweight, Joint contracture of the 5th finger |
OMIM:619562 |
Kallmann Syndrome |
|
Obesity |
ORPHA:478 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Increas... |
ORPHA:244242 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Insulin resistance, Absence of subcutaneous fat, Weight loss |
ORPHA:740 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Macroglossia, Failure to thrive, Obesity |
ORPHA:369950 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Inguinal hernia, Obesity |
OMIM:618653 |
Desbuquois Dysplasia 2 |
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Truncal obesity |
OMIM:615777 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Truncal obesity, Obesity |
ORPHA:466950 |
Kabuki Syndrome |
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Failure to thrive, Obesity, Congenital diaphragmatic hernia |
ORPHA:2322 |
Xq21 Microdeletion Syndrome |
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Upper limb muscle weakness, Abnormality of the Achilles tendon, Obesity |
ORPHA:1435 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
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Obesity |
OMIM:616078 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Truncal obesity |
ORPHA:2637 |
Pseudohypoparathyroidism Type 1A |
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Calcinosis, Enamel hypoplasia, Obesity |
ORPHA:79443 |
Prader-Willi Syndrome Due To Translocation |
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Obesity |
ORPHA:177907 |
1P21.3 Microdeletion Syndrome |
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Obesity |
ORPHA:293948 |
Myhre Syndrome |
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Small for gestational age, Generalized muscle hypertrophy, Obesity, Skeletal muscle hypertrophy, ... |
OMIM:139210 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical ... |
ORPHA:99413 |
Turner Syndrome |
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Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical ... |
ORPHA:881 |
Mosaic Monosomy X |
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Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical ... |
ORPHA:99228 |
Monosomy X |
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Elevated hepatic transaminase, Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical ... |
ORPHA:99226 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Elevated hepatic transaminase, Hyperglycemia, Obesity |
ORPHA:293987 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Macroglossia, Hyperglycemia, Obesity |
ORPHA:444077 |
Helsmoortel-Van Der Aa Syndrome |
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Truncal obesity, Failure to thrive, Facial palsy, Obesity |
OMIM:615873 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Elevated hepatic transaminase, Torticollis, Overweight, Jaundice, Obesity, Decreased body weight,... |
OMIM:619475 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Obesity |
ORPHA:466943 |
Lysinuric Protein Intolerance |
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Truncal obesity, Failure to thrive, Skeletal muscle atrophy |
OMIM:222700 |
White-Kernohan Syndrome |
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Obesity |
OMIM:619426 |
Adnp Syndrome |
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Umbilical hernia, Inguinal hernia, Truncal obesity |
ORPHA:404448 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Increased body weight, Weig... |
ORPHA:99889 |
Meningioma |
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Upper limb muscle weakness, Facial palsy, Lower limb muscle weakness, Obesity |
ORPHA:2495 |
22Q11.2 Deletion Syndrome |
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Inguinal hernia, Abnormal dental enamel morphology, Obesity, Umbilical hernia, Failure to thrive |
ORPHA:567 |
Williams-Beuren Syndrome |
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Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Portal hypertension, Flexion co... |
OMIM:194050 |
6Q Terminal Deletion Syndrome |
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Failure to thrive, Obesity |
ORPHA:75857 |
Monosomy 22Q13.3 |
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Umbilical hernia, Obesity |
ORPHA:48652 |
Alström Syndrome |
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Elevated hepatic transaminase, Dorsocervical fat pad, Portal hypertension, Insulin resistance, Hy... |
ORPHA:64 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Muscle hypertrophy of the lower extremities, Obesity |
ORPHA:1772 |
17Q24.2 Microdeletion Syndrome |
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Truncal obesity, Failure to thrive in infancy |
ORPHA:529962 |
Witteveen-Kolk Syndrome |
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Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Obesity, Contracture... |
OMIM:613406 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Abnormal subcutaneous ... |
ORPHA:79318 |
Carpenter Syndrome 2 |
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Diaphragmatic eventration, Obesity, Knee flexion contracture, Camptodactyly, Umbilical hernia |
OMIM:614976 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Abdominal obesity, Flexion contracture |
OMIM:619321 |
1P36 Deletion Syndrome |
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Myopathy, Failure to thrive, Camptodactyly of finger, Obesity |
ORPHA:1606 |
Ulnar-Mammary Syndrome |
|
Inguinal hernia, Elbow flexion contracture, Obesity |
OMIM:181450 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity |
ORPHA:70591 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Failure to thrive, Obesity |
OMIM:617157 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Keloids, Failure to thrive, Obesity |
ORPHA:353281 |
Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
Williams Syndrome |
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Inguinal hernia, Failure to thrive in infancy, Abnormal dental enamel morphology, Obesity, Macrog... |
ORPHA:904 |
Rubinstein-Taybi Syndrome 1 |
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Small for gestational age, Flexion contracture, Truncal obesity, Keloids, Enamel hypoplasia, Fail... |
OMIM:180849 |
Primrose Syndrome |
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Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Flexion contracture, Knee flexion co... |
OMIM:259050 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Keloids, Failure to thrive, Obesity, Corneal scarring |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Keloids, Failure to thrive, Obesity, Corneal scarring |
ORPHA:353277 |
Digeorge Syndrome |
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Umbilical hernia, Inguinal hernia, Femoral hernia, Obesity |
OMIM:188400 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Obesity, Camptodactyly of finger, Camptodactyly |
OMIM:607872 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Truncal obesity, Failure to thrive, Camptodactyly |
OMIM:612474 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Macroglossia, Lower limb hypertonia, Obesity |
OMIM:309580 |
Carney Complex |
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Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature |
ORPHA:1359 |
Cornelia De Lange Syndrome |
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Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia |
ORPHA:199 |
Pallister-Killian Syndrome |
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Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Macr... |
OMIM:601803 |