Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dopamine beta hydroxylase
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dbh mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dbh by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360

The table below shows human diseases predicted to be associated to Dbh by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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