| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance |
OMIM:125853 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance |
ORPHA:140941 |
| Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty |
OMIM:615961 |
| Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... |
ORPHA:293964 |
| Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... |
ORPHA:411593 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
| Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma, Increas... |
ORPHA:438274 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Polyphagia, Hypertriglyceridemia |
ORPHA:71529 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
| Cortisone Reductase Deficiency 2 |
|
Premature pubarche, Insulin resistance |
OMIM:614662 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia |
OMIM:618406 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... |
ORPHA:324575 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Polyphagia |
ORPHA:329249 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... |
ORPHA:79084 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... |
ORPHA:276580 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased response to growth hormone stimulation test, Hypoglycemia, Impaired growth-hormone resp... |
OMIM:262400 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... |
ORPHA:276575 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... |
ORPHA:171706 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... |
ORPHA:276608 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Central adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test,... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Central adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test,... |
ORPHA:71526 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia |
ORPHA:35878 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314811 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Polyphagia |
ORPHA:369873 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Hy... |
ORPHA:181393 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin res... |
ORPHA:276556 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Hypercholesterolemia, Hepatic steatosis, Hypertrig... |
OMIM:615703 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... |
ORPHA:79644 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypoglycemia, Hypothyroidism, Impaired growth-hormone response to insulin ... |
OMIM:262700 |
| Estrogen Resistance |
|
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Insulin resistance |
OMIM:617885 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterole... |
OMIM:232700 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, Hypertriglyc... |
ORPHA:280356 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Diabetes mellitus, Insulin resistance |
OMIM:615980 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed thelarche, Delayed puberty |
OMIM:616033 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic st... |
ORPHA:79085 |
| Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... |
ORPHA:66628 |
| Insulinoma |
|
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... |
OMIM:612526 |
| Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... |
ORPHA:179494 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia |
OMIM:240900 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Hypercholester... |
OMIM:606721 |
| Oculomotor-Levator Synkinesis |
|
Abnormal eyelid morphology, Eyelid retraction, Ptosis |
OMIM:151610 |
| Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia |
OMIM:617950 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadism, Central hypothyroidism, Hypoglycemia |
OMIM:616113 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Elevated circulating growth hormone concentration, Insulin r... |
ORPHA:90301 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance |
ORPHA:79087 |
| Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
| Marcus Gunn Phenomenon |
|
Congenital ptosis, Unilateral ptosis |
OMIM:154600 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Bangstad Syndrome |
|
Increased circulating cortisol level, Abnormality of the parathyroid gland, Type I diabetes melli... |
ORPHA:1227 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Cirrhosis, Hepatic steatos... |
OMIM:604367 |
| Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
| Bdv Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... |
OMIM:619326 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Polyphagia, Diabetes mellitus, Polydipsia |
OMIM:222100 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic st... |
ORPHA:435660 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... |
ORPHA:263455 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Short stature, Ptosis |
OMIM:253320 |
| Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
| Deafness, X-Linked 7 |
|
Thick eyebrow, Telecanthus, Ptosis |
OMIM:301018 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia, Hyperinsuli... |
ORPHA:363400 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... |
ORPHA:556037 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Neonatal hypoglycemia, Hypogonadism, Panhypopituitarism, Hypothyroidism, H... |
OMIM:262600 |
| Ptosis-Vocal Cord Paralysis Syndrome |
|
Severe short stature, Ptosis |
ORPHA:2997 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Growth delay, Increased circulating corticosterone level... |
OMIM:610600 |
| Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... |
ORPHA:556030 |
| Acth Deficiency, Isolated |
|
Fasting hypoglycemia, Jaundice, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... |
OMIM:201400 |
| Ptosis, Hereditary Congenital 2 |
|
Ptosis |
OMIM:300245 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hepatosplenomegaly, Hypergonadotropic hypogonad... |
ORPHA:79237 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... |
OMIM:260370 |
| Fibrosis Of Extraocular Muscles, Congenital, 5 |
|
Ptosis |
OMIM:616219 |
| Ptosis, Hereditary Congenital 1 |
|
Congenital ptosis |
OMIM:178300 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Insulin resistance, Hypogonadism, Hepatic steatosis, Diabetes mellitus, Hypertrigly... |
OMIM:615381 |
| Myasthenic Syndrome, Congenital, 17 |
|
Ptosis |
OMIM:616304 |
| Leptin Receptor Deficiency |
|
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... |
OMIM:614963 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Gonadot... |
OMIM:609734 |
| Zollinger-Ellison Syndrome |
|
Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Increased urinary cortis... |
ORPHA:913 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia |
ORPHA:2849 |
| Ptosis, Strabismus, And Ectopic Pupils |
|
Ptosis |
OMIM:178330 |
| Oculomotor-Abducens Synkinesis |
|
Ptosis |
OMIM:619215 |
| Insulin-Like Growth Factor I Deficiency |
|
Intrauterine growth retardation, Short stature, Ptosis |
OMIM:608747 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Insulin resistance, Hypercholesterolemia, Cirrhosis,... |
ORPHA:528 |
| Myasthenic Syndrome, Congenital, 15 |
|
Ptosis |
OMIM:616227 |
| Estrogen Resistance Syndrome |
|
Glucose intolerance, Absence of pubertal development, Absence of secondary sex characteristics, I... |
ORPHA:785 |
| Joubert Syndrome 26 |
|
Central hypothyroidism, Short stature, Ptosis, Panhypopituitarism, Decreased response to growth h... |
OMIM:616784 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Hypoglycemia |
ORPHA:446 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... |
ORPHA:300373 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Ptosis |
OMIM:618197 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis |
OMIM:617872 |
| Bifid Nose, Autosomal Dominant |
|
Ptosis |
OMIM:109740 |
| Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... |
OMIM:246200 |
| Insulin-Resistance Syndrome Type B |
|
Increased serum testosterone level, Fasting hypoglycemia, Type II diabetes mellitus, Abnormality ... |
ORPHA:2298 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
| Primary Lipodystrophy |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Pancreatitis, Splenomegaly, Cirrho... |
ORPHA:90970 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Increased circulati... |
ORPHA:2457 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Pancrea... |
ORPHA:79083 |
| Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:202200 |
| Myasthenic Syndrome, Congenital, 18 |
|
Ptosis |
OMIM:616330 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic fibrosis |
OMIM:602579 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Cirrhosis, Hepatic steatos... |
ORPHA:79086 |
| Myasthenic Syndrome, Congenital, 13 |
|
Ptosis |
OMIM:614750 |
| Myasthenic Syndrome, Congenital, 8 |
|
Ptosis |
OMIM:615120 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Acute pancreatitis, Hypertrigly... |
OMIM:608600 |
| 2p15-16.1 microdeletion syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
DECIPHER:70 |
| Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Hypothyroidism, Portal hypertension |
ORPHA:79319 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitu... |
ORPHA:2348 |
| Congenital Isolated Acth Deficiency |
|
Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insuf... |
ORPHA:199296 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Ptosis |
OMIM:616326 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Ptosis, Telecanthus, Downslanted palpebral fissures, At... |
OMIM:619189 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypoglycemia, Hypogonadotropic hypogonadism, D... |
ORPHA:453533 |
| Endocardial Fibroelastosis |
|
Hypoglycemia, Anterior hypopituitarism |
ORPHA:2022 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
| Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Intrauterine growth retardation, Thick eyebrow, Short stature, Ptosis |
OMIM:606242 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia |
ORPHA:364 |
| Hypertrichosis Cubiti |
|
Ptosis, Rhizomelia, Downslanted palpebral fissures, Abnormal eyelid morphology, Severe short stat... |
ORPHA:2220 |
| Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
| Vocal Cord Paralysis And Ptosis |
|
Bilateral ptosis |
OMIM:193240 |
| Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus |
ORPHA:65288 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Polydipsia, Insulin resistance, Insulin... |
ORPHA:769 |
| Disproportionate Short Stature With Ptosis And Valvular Heart Lesions |
|
Short stature, Ptosis, Pulmonic stenosis, Abnormal heart valve morphology, Disproportionate short... |
OMIM:126190 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Hyperins... |
OMIM:608612 |
| Myasthenic Syndrome, Congenital, 22 |
|
Decreased response to growth hormone stimulation test, Short stature, Ptosis |
OMIM:616224 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Decreased circulating aldosterone level, Precocious puberty i... |
ORPHA:90793 |
| Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Pancreatitis, Hepatic steatosi... |
ORPHA:435651 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Dysphagia, Insulin resistance, Splenomegaly, Hepatic steatosis, Hypertriglyceridemi... |
OMIM:613327 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Hypoglycemia, Insulin resistance |
ORPHA:73272 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
| Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Epicanthus, Horizontal eyebrow, Ptosis |
OMIM:619311 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia |
ORPHA:35 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hypoglycemia, Cirrhosis, Cholestasis, Jaundice |
OMIM:617156 |
| Trismus-Pseudocamptodactyly Syndrome |
|
Short stature, Ptosis |
ORPHA:3377 |
| Cornelia De Lange Syndrome 2 |
|
Hypertrophic cardiomyopathy, Highly arched eyebrow, Intrauterine growth retardation, Short statur... |
OMIM:300590 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Telecanthus, Short stature, Ptosis |
OMIM:616681 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, ... |
ORPHA:369 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia, Insulin resistance |
ORPHA:199276 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia |
OMIM:201910 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Hypercholesterolemia, Hepatic s... |
OMIM:151660 |
| Post-Traumatic Pituitary Deficiency |
|
Abnormal prolactin level, Hypoglycemia, Hypogonadotropic hypogonadism, Pituitary hypothyroidism, ... |
ORPHA:95619 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Neonatal hypoglycemia,... |
ORPHA:71212 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Thyroiditis, Postnatal growth retard... |
OMIM:618985 |
| Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... |
OMIM:203800 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Dysphagia, Hypoglycemia |
OMIM:618253 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia |
OMIM:232400 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... |
OMIM:615925 |
| Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose tolerance, H... |
OMIM:248370 |
| Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cortisol level |
OMIM:600955 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Decreased circulating cortisol level |
OMIM:618838 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Narrow palpebral fissure, Short stature, Ptosis, Delayed puberty, Blepharophimosis |
OMIM:301900 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Precocious puberty, Ptosis, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
| Ascher Syndrome |
|
Goiter, Ptosis, Abnormal eyelid morphology, Hypothyroidism, Upper eyelid edema, Blepharophimosis |
ORPHA:1253 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Mitral valve prolapse, Ptosis, Pulmonic stenosis, Abnormal heart valve morphology, Disproportiona... |
ORPHA:2868 |
| Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease |
|
Unilateral narrow palpebral fissure, Unilateral ptosis |
OMIM:182875 |
| Arthrogryposis, Distal, Type 7 |
|
Short stature, Ptosis |
OMIM:158300 |
| Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hypoglycemia, Hepatic fibrosis, Cirrhosis, Cholestasis, Prolonged neonat... |
OMIM:231100 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Ptosis, Epicanthus, Abnormal lacrimal duct morphology, Blepharophimosis, Synophrys |
ORPHA:126 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased... |
ORPHA:94086 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Epicanthus, Delayed puberty, Short stature, Ptosis |
ORPHA:1825 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Ptosis |
OMIM:108600 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Epicanthus, Short stature, Ptosis |
ORPHA:1373 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Precocious puberty, Congenital hypothyroidism |
OMIM:614736 |
| Mental Retardation, Autosomal Dominant 26 |
|
Highly arched eyebrow, Short stature, Ptosis, Downslanted palpebral fissures, Short palpebral fis... |
OMIM:615834 |
| Growth Factors, Combined Defect Of |
|
Insulin-resistant diabetes mellitus |
OMIM:233805 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis... |
OMIM:608594 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Highly arched eyebrow, Growth delay, Short stature, Ptosis |
ORPHA:438178 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Ptosis |
ORPHA:1875 |
| Juberg-Hayward Syndrome |
|
Highly arched eyebrow, Decreased response to growth hormone stimulation test, Short stature, Ptosis |
OMIM:216100 |
| Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Cardiomyopathy, Ptosis |
OMIM:520000 |
| Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Chemode... |
OMIM:168000 |
| Noonan Syndrome 11 |
|
Hypertrophic cardiomyopathy, Short stature, Ptosis, Downslanted palpebral fissures, Pulmonic sten... |
OMIM:618499 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Growth delay, Ptosis |
OMIM:615895 |
| Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Chemodectoma, Elevated circulating catec... |
OMIM:605373 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... |
OMIM:615954 |
| Short Syndrome |
|
Diabetes mellitus, Insulin resistance |
ORPHA:3163 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Hypertriglycerid... |
ORPHA:280365 |
| Arthrogryposis, Distal, Type 2B3 |
|
Downslanted palpebral fissures, Short stature, Ptosis |
OMIM:618436 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Polyphagia, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis... |
OMIM:269700 |
| Whipple Disease |
|
Hepatomegaly, Polydipsia, Insulin resistance, Splenomegaly, Hypothyroidism |
ORPHA:3452 |
| Mental Retardation, Autosomal Dominant 57 |
|
Short stature, Ptosis, Upslanted palpebral fissure, Telecanthus, Epicanthus, Blepharophimosis |
OMIM:618050 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Short stature, Ptosis |
OMIM:300580 |
| Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia |
OMIM:240200 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Ptosis |
OMIM:616323 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
| Myopathy, Congenital, Bailey-Bloch |
|
Short stature, Ptosis, Telecanthus, Downslanted palpebral fissures, Short palpebral fissure, Blep... |
OMIM:255995 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Highly arched eyebrow, Growth delay, Ptosis |
OMIM:616154 |
| Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Recurrent hypoglycemia, Hyperhidrosis, Precocious puberty |
ORPHA:813 |
| 2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypoglycemia |
ORPHA:163693 |
| Joubert Syndrome 36 |
|
Highly arched eyebrow, Ptosis |
OMIM:618763 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Highly arched eyebrow, Short stature, Ptosis, Atrioventricular canal defect, Upslanted palpebral ... |
OMIM:613792 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism, Ptosis |
ORPHA:663 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Hyperlipidemia, Insulin resistance |
ORPHA:90154 |
| Pituitary Stalk Interruption Syndrome |
|
Hypoglycemia, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Adrenal hypopla... |
ORPHA:95496 |
| Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Short stature, Ptosis, Downslanted palpebral fissures, Pulmonic sten... |
ORPHA:638 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Delayed puberty, Decreased ser... |
ORPHA:3464 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Recurrent hypoglycemia, Hepatic s... |
OMIM:212140 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:266150 |
| Coffin-Siris Syndrome 8 |
|
Thick eyebrow, Long eyelashes, Ptosis |
OMIM:618362 |
| Hadziselimovic Syndrome |
|
Ventricular septal defect, Short stature, Ptosis, Ventricular hypertrophy, Epicanthus, Atrial sep... |
OMIM:612946 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Highly arched eyebrow, Short stature, Ptosis, Thick eyebrow, Blepharophimosis, Synophrys |
ORPHA:2057 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Ptosis, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Downslanted palpebral fissures, Ptosis |
OMIM:611890 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Ptosis |
OMIM:616321 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Atrial septal defect, Ptosis |
OMIM:617190 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Short stature, Bilateral ptosis, Upslanted palpebral fissure, Abnormal hea... |
ORPHA:352490 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Adrenal insufficiency, Intrauterine growth retardation, Ptosis |
OMIM:618238 |
| Cornelia De Lange Syndrome 5 |
|
Highly arched eyebrow, Short stature, Ptosis, Telecanthus, Long eyelashes, Hypogonadism, Postnata... |
OMIM:300882 |
| Ring Chromosome 1 Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:1437 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Oral aversion, Hyperhidrosis, Dec... |
ORPHA:96182 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral ptosis, Type I diabetes mellitus |
OMIM:618856 |
| Frontoocular Syndrome |
|
Ptosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Pulmonic stenosis, Atri... |
OMIM:605321 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Ptosis, Epicanthus, Transposition of ... |
ORPHA:1913 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261680 |
| Aromatase Deficiency |
|
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Hepatic steatosis, Hypergonadotrop... |
ORPHA:91 |
| Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Hypoglycemia, Increased circulating cortisol level, Insulinoma, Thyroid a... |
OMIM:131100 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Ptosis, Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Blepharophimosis |
OMIM:614230 |
| Ohdo Syndrome |
|
Short stature, Ptosis, Epicanthus, Sparse and thin eyebrow, Blepharophimosis |
OMIM:249620 |
| Cardiofaciocutaneous Syndrome 4 |
|
Short stature, Ptosis, Abnormal aortic valve morphology, Abnormal ventricular septum morphology, ... |
OMIM:615280 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypoglycemia, Diabetes mellitus, Glycosuria |
OMIM:616026 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... |
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... |
OMIM:610489 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Intrauterine growth retardation, Neonatal death, Cardiomyopathy, Decreased circ... |
OMIM:618839 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Ptosis |
OMIM:617732 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Death in infancy, Intrauterine growth retardation, Neonatal death, D... |
OMIM:618835 |
| Whistling Face Syndrome, Recessive Form |
|
Ptosis, Telecanthus, Epicanthus, Short palpebral fissure, Blepharophimosis |
OMIM:277720 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Short stature, Ptosis, Abnormal left ventricle morphology, Hypergonadotro... |
OMIM:300845 |
| Coffin-Siris Syndrome 5 |
|
Intrauterine growth retardation, Short stature, Ptosis, Long eyelashes, Atrial septal defect, Thi... |
OMIM:616938 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Intrauterine growth retardation, Growth delay, Short stature, Ptosis, Downslanted palpebral fissu... |
OMIM:617333 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Upslanted palpebral fissure, Ventricular septal defect, Atrial septal defect, Ptosis |
OMIM:613458 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Insulin resistance |
ORPHA:90153 |
| Mental Retardation, Autosomal Dominant 29 |
|
Synophrys, Downslanted palpebral fissures, Ptosis |
OMIM:616078 |
| Prader-Willi Syndrome |
|
Adrenal insufficiency, Type II diabetes mellitus, Polyphagia, Hypogonadotropic hypogonadism, Dela... |
OMIM:176270 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating follicle stimulating hormone level, Short stature, Absence of secondary sex ... |
ORPHA:90796 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Ptosis, Telecanthus, Sparse eyebrow, Epicanthus, Thick eyebrow |
OMIM:617268 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
| Amyotrophy, Hereditary Neuralgic |
|
Short stature, Ptosis, Upslanted palpebral fissure, Epicanthus, Blepharophimosis |
OMIM:162100 |
| Leprechaunism |
|
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Insulin resistance, Recurrent infanti... |
ORPHA:508 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Hypothyroidism, Insulin resistance |
OMIM:616541 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Insulin resistance |
ORPHA:96168 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Ptosis |
OMIM:615917 |
| Craniosynostosis 3 |
|
Ptosis |
OMIM:615314 |
| Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Insulin resistance, Hypogonadism, Nephrogenic diabetes insipidus, Diabetes mell... |
OMIM:209900 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... |
ORPHA:189439 |
| Mental Retardation, Autosomal Dominant 30 |
|
Ptosis |
OMIM:616083 |
| Ohdo Syndrome, X-Linked |
|
Blepharophimosis, Ptosis |
OMIM:300895 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... |
OMIM:619424 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Short stature, Congenital ptosis, Hypergonadotropic hypogonadism, Decreas... |
ORPHA:280679 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ptosis |
OMIM:609283 |
| Warburg Micro Syndrome 4 |
|
Severe postnatal growth retardation, Short stature, Ptosis |
OMIM:615663 |
| Char Syndrome |
|
Highly arched eyebrow, Thick eyebrow, Ptosis |
OMIM:169100 |
| Gitelman Syndrome |
|
Maternal diabetes, Type II diabetes mellitus, Primary hyperaldosteronism, Insulin resistance, Pol... |
ORPHA:358 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypoglycemia, Hypoi... |
ORPHA:2126 |
| Mcdonough Syndrome |
|
Ventricular septal defect, Short stature, Ptosis, Upslanted palpebral fissure, Pulmonic stenosis,... |
OMIM:248950 |
| Developmental And Epileptic Encephalopathy 18 |
|
Highly arched eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:615476 |
| Proximal Xq28 Duplication Syndrome |
|
Epicanthus, Blepharophimosis, Short stature, Ptosis |
ORPHA:1762 |
| Segawa Syndrome, Autosomal Recessive |
|
Ptosis |
OMIM:605407 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis |
OMIM:192800 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... |
ORPHA:95699 |
| Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Ptosis, Double outlet right ventricle, Abnormal heart morphology, Epicanthus, Pulmonic stenosis, ... |
OMIM:618164 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Growth delay, Ptosis, Epicanthus, Downslanted palpebral fissures, Tran... |
ORPHA:1727 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Intrauterine growth retardation, Decreased circulating r... |
ORPHA:320 |
| Paroxysmal Hemicrania |
|
Conjunctival hyperemia, Palpebral edema, Diabetes mellitus, Ptosis |
ORPHA:157835 |
| Teebi Hypertelorism Syndrome 1 |
|
Highly arched eyebrow, Ventricular septal defect, Short stature, Ptosis, Upslanted palpebral fiss... |
OMIM:145420 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Ptosis, Abnormal heart morphology, Downslanted palpebral fissures, Diabetes mellitus, Hypothyroid... |
ORPHA:391372 |
| Trisomy 5P |
|
Short stature, Ptosis |
ORPHA:1742 |
| Polyvalvular Heart Disease Syndrome |
|
Mitral valve prolapse, Short stature, Ptosis, Pulmonic stenosis, Abnormal heart valve morphology,... |
ORPHA:228410 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Mitral valve prolapse, Short stature, Ptosis, Telecanthus |
OMIM:247410 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Thick eyebrow, Epicanthus, Ptosis |
ORPHA:444002 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Short stature, Ptosis, Left ventricular nonc... |
OMIM:252011 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2958 |
| Myasthenic Syndrome, Congenital, 19 |
|
Ptosis |
OMIM:616720 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Highly arched eyebrow, Lacrimal gland aplasia, Ectopic lacrimal punctum, Streak ovary, Elevated c... |
ORPHA:572333 |
| Helsmoortel-Van Der Aa Syndrome |
|
Narrow palpebral fissure, Short stature, Ptosis, Eyelid coloboma, Abnormal heart morphology, Down... |
OMIM:615873 |
| Hypotonia-Cystinuria Syndrome |
|
Epicanthus, Growth delay, Ptosis |
ORPHA:163690 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Ptosis |
OMIM:617069 |
| Prieto X-Linked Mental Retardation Syndrome |
|
Epicanthus, Ptosis |
OMIM:309610 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Abnormal eyelid morphology, Ptosis |
ORPHA:251282 |
| Progressive Hemifacial Atrophy |
|
Ptosis |
ORPHA:1214 |
| Rare Non-Syndromic Intellectual Disability |
|
Ptosis |
ORPHA:101685 |
| Werner Syndrome |
|
Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance |
ORPHA:902 |
| Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Short stature, Ptosis, Epicanthus, Downsl... |
OMIM:615355 |
| Meier-Gorlin Syndrome 8 |
|
Intrauterine growth retardation, Ptosis |
OMIM:617564 |
| Rhyns Syndrome |
|
Ptosis, Hypopituitarism |
ORPHA:140976 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Jaundice |
OMIM:616483 |
| Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Hypertriglyceridemia, Hypothyroidism |
OMIM:617575 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Highly arched eyebrow, Downslanted palpebral fissures, Short stature, Ptosis |
ORPHA:457365 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Death in childhood, Epicanthus, Ptosis |
OMIM:269920 |
| Widow'S Peak Syndrome |
|
Mild short stature, Short stature, Ptosis |
OMIM:314570 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Death in childhood, Growth delay, Ptosis |
OMIM:619422 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Ptosis, Hypergonadotropic hypogonadism |
OMIM:615084 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Abnormal heart morphology, Ptosis |
ORPHA:1067 |
| Mcdonough Syndrome |
|
Synophrys, Short stature, Ptosis, Short palpebral fissure |
ORPHA:2471 |
| Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Ptosis |
OMIM:258470 |
| Baraitser-Winter Syndrome 2 |
|
Highly arched eyebrow, Short stature, Ptosis, Telecanthus, Long palpebral fissure |
OMIM:614583 |
| Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Bicuspid aortic valve, Ptosis, Long eyelashes, Downslanted palpebral fissu... |
OMIM:615009 |
| Frias Syndrome |
|
Downslanted palpebral fissures, Short stature, Ptosis |
OMIM:609640 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ptosis |
OMIM:610542 |
| Ophthalmoplegia Totalis With Ptosis And Miosis |
|
Ptosis |
OMIM:258400 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis, Synophrys |
ORPHA:1390 |
| Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Telecanthus, Blepharophimosis, Ptosis |
OMIM:606772 |
| Hartsfield Syndrome |
|
Intrauterine growth retardation, Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2117 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Short stature, Ptosis |
ORPHA:2013 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Short stature, Ptosis, Thick eyebrow, Blepharophimosis, Synophrys |
OMIM:210745 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Superior rectus... |
OMIM:600638 |
| Myasthenic Syndrome, Congenital, 16 |
|
Ptosis |
OMIM:614198 |
| Proteus Syndrome |
|
Limbal dermoid, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
| 16P12.1P12.3 Triplication Syndrome |
|
Intrauterine growth retardation, Abnormal heart morphology, Abnormal tricuspid valve morphology, ... |
ORPHA:485405 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Intrauterine growth retardation, Growth delay, Short stature, Ptosis, Sparse ey... |
OMIM:613026 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ptosis |
OMIM:617070 |
| Microphthalmia, Syndromic 13 |
|
Short stature, Ptosis |
OMIM:300915 |
| Fibrosis Of Extraocular Muscles, Congenital, 1 |
|
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph... |
OMIM:135700 |
| Chromosome 5Q12 Deletion Syndrome |
|
Growth delay, Long palpebral fissure, Ptosis |
OMIM:615668 |
| Wolfram Syndrome 1 |
|
Testicular atrophy, Diabetes insipidus, Growth delay, Ptosis, Cardiomyopathy, Diabetes mellitus, ... |
OMIM:222300 |
| Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve, Short stature, Ptosis, Epicanthus, Thick eyebrow, Synophrys |
OMIM:619641 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Highly arched eyebrow, Ptosis, Abnormal heart morphology, Epicanthus, Synophrys |
OMIM:617062 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Ptosis |
OMIM:610539 |
| Au-Kline Syndrome |
|
Sparse lateral eyebrow, Downslanted palpebral fissures, Long palpebral fissure, Ptosis |
OMIM:616580 |
| Legius Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:611431 |
| Cluster Headache, Familial |
|
Ptosis |
OMIM:119915 |
| Thymic Tumor |
|
Neuroendocrine neoplasm, Pericarditis, Ptosis, Neoplasm of the thymus, Palpebral edema |
ORPHA:100100 |
| Mental Retardation, Autosomal Recessive 65 |
|
Atrial septal defect, Downslanted palpebral fissures, Ptosis |
OMIM:618109 |
| Noonan Syndrome 9 |
|
Ventricular septal defect, Short stature, Ptosis, Sparse eyebrow, Downslanted palpebral fissures,... |
OMIM:616559 |
| Immunodeficiency, Common Variable, 10 |
|
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Hypoglycemia, Decrease... |
OMIM:615577 |
| Myasthenic Syndrome, Congenital, 10 |
|
Ptosis |
OMIM:254300 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Dilated cardiomyopathy, Ptosis, Hypergonadotropic hypogonadism |
OMIM:212112 |
| Mental Retardation, Buenos Aires Type |
|
Ptosis, Curly eyelashes, Long eyelashes, Downslanted palpebral fissures, Atrial septal defect |
OMIM:249630 |
| Wernicke-Korsakoff Syndrome |
|
Ptosis |
OMIM:277730 |
| Distal Trisomy 15Q |
|
Blepharophimosis, Intrauterine growth retardation, Downslanted palpebral fissures, Ptosis |
ORPHA:1707 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Ptosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissu... |
OMIM:617360 |
| Rhyns Syndrome |
|
Short stature, Ptosis, Pituitary hypothyroidism, Anterior hypopituitarism, Decreased response to ... |
OMIM:602152 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Ptosis |
OMIM:618637 |
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Ptosis |
OMIM:616325 |
| Oculopharyngodistal Myopathy 2 |
|
Ptosis |
OMIM:618940 |
| Baraitser-Winter Syndrome 1 |
|
Highly arched eyebrow, Bicuspid aortic valve, Short stature, Ptosis, Epicanthus, Long palpebral f... |
OMIM:243310 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:613603 |
| Myasthenic Syndrome, Congenital, 4B, Fast-Channel |
|
Ptosis |
OMIM:616324 |
| Rere-Related Neurodevelopmental Syndrome |
|
Broad eyebrow, Ventricular septal defect, Intrauterine growth retardation, Ptosis, Abnormal heart... |
ORPHA:494344 |
| Noonan Syndrome 6 |
|
Hypertrophic cardiomyopathy, Growth delay, Short stature, Bilateral ptosis, Epicanthus, Downslant... |
OMIM:613224 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Ptosis |
OMIM:615156 |
| Spinocerebellar Ataxia 28 |
|
Ptosis |
OMIM:610246 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ptosis, Cardiomyopathy, Hypogonadism, Diabetes mellitus, Abnormality of the thyroid gland |
OMIM:609286 |
| Noonan Syndrome 5 |
|
Hypertrophic cardiomyopathy, Short stature, Ptosis, Epicanthus, Downslanted palpebral fissures, S... |
OMIM:611553 |
| Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome |
|
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis |
ORPHA:3038 |
| Ophthalmoplegia, External, And Myopia |
|
Ptosis |
OMIM:311000 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Short stature, Ptosis, Cardiomyopathy, Primary adrenal insufficiency, Diabete... |
OMIM:530000 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Bilateral ptosis, Diabetes mellitus, Cardiomyopathy |
ORPHA:1215 |
| Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Hepatic steatosis |
OMIM:201450 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... |
ORPHA:786 |
| Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus |
OMIM:609069 |
| Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
|
Ptosis |
ORPHA:83619 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Ptosis |
ORPHA:330054 |
| Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Long eyelashes, Ptosis, Hypergonadotropic ... |
OMIM:606407 |
| Frontofacionasal Dysplasia |
|
Limbal dermoid, Upper eyelid coloboma, Short stature, Ptosis, Telecanthus, Absent inner eyelashes... |
ORPHA:1791 |
| Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Ptosis |
OMIM:616322 |
| Neonatal Adrenoleukodystrophy |
|
Short stature, Primary adrenal insufficiency, Ptosis |
ORPHA:44 |
| Freeman-Sheldon Syndrome |
|
Growth delay, Downslanted palpebral fissures, Short stature, Ptosis |
ORPHA:2053 |
| Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Narrow palpebral fissure, Intrauterine growth ret... |
ORPHA:439822 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-angiotensin system, Jaundice, Abnormal circu... |
ORPHA:90790 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Downslanted palpebral fissures, Ptosis |
OMIM:616828 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Ptosis |
OMIM:617239 |
| Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Ptosis |
ORPHA:255241 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Mitral valve prolapse, Ptosis, Short chordae tendineae of the mitral valve... |
OMIM:314400 |
| Riboflavin Transporter Deficiency |
|
Hypogonadism, Diabetes insipidus, Ptosis |
ORPHA:97229 |
| Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia |
OMIM:223360 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Telecanthus, Blepharophimosis, Ptosis |
ORPHA:397973 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ptosis |
OMIM:254210 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Ptosis |
OMIM:616313 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Growth delay, Ptosis |
OMIM:613561 |
| Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... |
ORPHA:91349 |
| Oculopharyngeal Muscular Dystrophy |
|
Ptosis |
ORPHA:270 |
| Mosaic Trisomy 14 |
|
Blepharophimosis, Ptosis |
ORPHA:1703 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Ptosis |
OMIM:120433 |
| 9Q21.13 Microdeletion Syndrome |
|
Abnormal heart morphology, Postnatal growth retardation, Long palpebral fissure, Ptosis |
ORPHA:531151 |
| King-Denborough Syndrome |
|
Ventricular septal defect, Short stature, Ptosis, Bilateral ptosis, Downslanted palpebral fissures |
OMIM:619542 |
| Cardiofaciocutaneous Syndrome 2 |
|
Absent eyebrow, Mitral valve prolapse, Ptosis |
OMIM:615278 |
| Warburg Micro Syndrome 1 |
|
Short stature, Ptosis |
OMIM:600118 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Ptosis, Hypergonadotropic hypogonadism |
ORPHA:352447 |
| Spinocerebellar Ataxia Type 28 |
|
Ptosis |
ORPHA:101109 |
| Tetrasomy 12P |
|
Short stature, Ptosis, Upslanted palpebral fissure, Telecanthus, Sparse and thin eyebrow |
ORPHA:884 |
| Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Insulin resistance, Secondary hyperparathyro... |
ORPHA:273 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Short stature, Ptosis, Right ventricular hypertrophy, Atrial septal de... |
OMIM:614261 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Highly arched eyebrow, Narrow palpebral fissure, Sparse eyelashes, Ptosis, Epicanthus, Sparse eye... |
OMIM:619293 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis, Synophrys |
OMIM:615761 |
| Carey-Fineman-Ziter Syndrome |
|
Growth delay, Ptosis, Epicanthus, Downslanted palpebral fissures, Abnormal cardiac septum morphology |
OMIM:254940 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Cardiomyopathy, Ptosis |
OMIM:619566 |
| Terminal Osseous Dysplasia |
|
Telecanthus, Epicanthus, Ptosis |
OMIM:300244 |
| Arthrogryposis, Distal, Type 5 |
|
Epicanthus, Blepharophimosis, Short stature, Ptosis |
OMIM:108145 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Short stature, Ptosis, Bilateral ptosis, ... |
OMIM:610733 |
| Sclerosteosis |
|
Ptosis |
ORPHA:3152 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Highly arched eyebrow, Absent lacrimal punctum, Ptosis, Telecanthus, Absent eyelashes, Thick eyebrow |
ORPHA:228396 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Ptosis |
ORPHA:2743 |
| Myasthenic Syndrome, Congenital, 5 |
|
Ptosis |
OMIM:603034 |
| X-Linked Mandibulofacial Dysostosis |
|
Short stature, Abnormal mitral valve morphology, Ptosis, Epicanthus, Downslanted palpebral fissur... |
ORPHA:1131 |
| 4Q21 Microdeletion Syndrome |
|
Intrauterine growth retardation, Growth delay, Ptosis, Long eyelashes, Synophrys |
ORPHA:238750 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Ptosis |
OMIM:608930 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ptosis |
OMIM:605809 |
| Salih Myopathy |
|
Dilated cardiomyopathy, Ptosis |
OMIM:611705 |
| Glycogen Storage Disease Xii |
|
Epicanthus, Delayed puberty, Short stature, Ptosis |
OMIM:611881 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ptosis |
OMIM:312170 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Ptosis |
OMIM:601462 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Abnormal cardiac septum morphology, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:616449 |
| Fazio-Londe Disease |
|
Ptosis |
OMIM:211500 |
| Weiss-Kruszka Syndrome |
|
Highly arched eyebrow, Bicuspid aortic valve, Ventricular septal defect, Ptosis, Epicanthus, Down... |
OMIM:618619 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Ptosis |
OMIM:610743 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia |
OMIM:615751 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Ptosis |
OMIM:605637 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Short stature, Ptosis, Upslanted palpebral fissure, Abnormal heart mor... |
ORPHA:369891 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia |
OMIM:210200 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Intrauterine growth retardation, Ptosis |
OMIM:618958 |
| Distal Trisomy 6P |
|
Intrauterine growth retardation, Short stature, Ptosis, Abnormal eyelash morphology, Blepharophim... |
ORPHA:1745 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Short stature, Ptosis |
OMIM:616549 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Short stature, Ptosis, Pulmonic steno... |
OMIM:615102 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short stature, Ptosis, Telecanthus, Downslanted palpebral fissures, Epicanthus, Short palpebral f... |
OMIM:612513 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ptosis |
OMIM:618225 |
| Monosomy 18P |
|
Short stature, Epicanthus, Hypothyroidism, Ptosis |
ORPHA:1598 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Proportionate short stature, Ptosis |
OMIM:609654 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Short stature, Ptosis |
OMIM:614831 |
| Wagr Syndrome |
|
Short stature, Ptosis |
ORPHA:893 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism, Ptosis |
OMIM:251900 |
| Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
| Joubert Syndrome 14 |
|
Highly arched eyebrow, Growth delay, Ptosis, Epicanthus, Downslanted palpebral fissures |
OMIM:614424 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Epicanthus, Ptosis |
OMIM:614744 |
| Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Hypoglycemia, Hypergonadotropic hypogonadism, Incr... |
ORPHA:95613 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Popliteal pterygium, Intrauterine growth retardation, Short stature, Ptosis, Abnormal aortic valv... |
ORPHA:2990 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Ptosis |
OMIM:301830 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Ptosis |
OMIM:618170 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Short stature, Unilateral ptosis |
OMIM:619318 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hypoglycemia, Hepatitis, Decreased circulating ACTH level, Pituitary adenoma,... |
ORPHA:199299 |
| Acromelic Frontonasal Dysostosis |
|
Telecanthus, Downslanted palpebral fissures, Ptosis, Hypopituitarism |
OMIM:603671 |
| Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence |
|
Ptosis |
OMIM:609612 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Death in infancy, Ptosis |
OMIM:147800 |
| Fetal Alcohol Syndrome |
|
Intrauterine growth retardation, Short stature, Ptosis, Telecanthus, Epicanthus, Atrial septal de... |
ORPHA:1915 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Short stature, Ptosis, Upslanted palpebral fissure, Epicanthus, Short ... |
OMIM:617159 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Death in adolescence, Long eyelashes, Ptosis |
OMIM:619076 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Ptosis |
ORPHA:324262 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Cardiomyopathy, Ptosis |
OMIM:619046 |
| Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Ptosis, Short statur... |
OMIM:305400 |
| Purpura Simplex |
|
Ptosis |
OMIM:179000 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Ptosis |
ORPHA:424107 |
| Bloom Syndrome |
|
Diabetes mellitus, Insulin resistance |
ORPHA:125 |
| Juberg-Hayward Syndrome |
|
Highly arched eyebrow, Intrauterine growth retardation, Ptosis, Abnormal eyebrow morphology, Seve... |
ORPHA:2319 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Ptosis |
OMIM:607684 |
| Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation |
|
Upslanted palpebral fissure, Epicanthus, Short stature, Ptosis |
OMIM:613627 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Intrauterine growth retardation, Ptosis, Atrial septal defect, Postnatal growth retardation, Blep... |
ORPHA:2728 |
| Meckel Syndrome, Type 10 |
|
Narrow palpebral fissure, Epicanthus, Ptosis |
OMIM:614175 |
| Non-Distal Monosomy 10Q |
|
Upslanted palpebral fissure, Synophrys, Epicanthus, Ptosis |
ORPHA:1581 |
| Atypical Werner Syndrome |
|
Type II diabetes mellitus, Abnormality of circulating leptin level, Insulin-resistant diabetes me... |
ORPHA:79474 |
| Keipert Syndrome |
|
Epicanthus, Short stature, Ptosis |
ORPHA:2662 |
| Frontonasal Dysplasia 1 |
|
Tetralogy of Fallot, Epicanthus, Ptosis |
OMIM:136760 |
| Ververi-Brady Syndrome |
|
Intrauterine growth retardation, Short stature, Ptosis, Upslanted palpebral fissure, Transpositio... |
OMIM:617982 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
| Cataract, Aberrant Oral Frenula, And Growth Retardation |
|
Short stature, Ptosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Blepharo... |
OMIM:115645 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Ptosis |
ORPHA:2617 |
| Wiedemann-Steiner Syndrome |
|
Intrauterine growth retardation, Short stature, Ptosis, Rhizomelia, Telecanthus, Epicanthus, Long... |
ORPHA:319182 |
| Waardenburg Syndrome Type 2 |
|
Telecanthus, Ptosis |
ORPHA:895 |
| Kosaki Overgrowth Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Growth delay, Ptosis, Upslanted palpebral fissure, Epicanthus, Downslanted palpebral fissures |
OMIM:618659 |
| Prolactinoma |
|
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Ptosis, Hypogonadotropic h... |
ORPHA:2965 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
