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Gene: Dbh MGI:94864

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration 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
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Acid-Labile Subunit Deficiency
Delayed puberty, Insulin insensitivity, Decreased serum insulin-like growth factor 1 OMIM:615961
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Short Stature Due To Partial Ghr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314802
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche... OMIM:614662
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Increas... ORPHA:438274
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Increased serum leptin, Insul... OMIM:617885
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:35878
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Polyphagia, Type II diabetes mellitus ORPHA:71529
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis, Polyphagia OMIM:620195
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperhidrosis, Hyper... ORPHA:276608
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Hepatic stea... ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Episodic hyperhidrosis, Diffuse pancreatic is... ORPHA:276575
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Hyperinsulinemia, Polyphagia, Glucose intolerance ORPHA:369873
Isolated Growth Hormone Deficiency, Type Ia
Reduced circulating growth hormone concentration, Prolonged neonatal jaundice, Hypoglycemia, Decr... OMIM:262400
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Short Stature Due To Ghsr Deficiency
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 ORPHA:314811
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Hepatomegaly, Episodic hyperhidrosis, Diffuse pancreatic islet ... ORPHA:276556
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Hepatic steatosis, Type II diabetes mellitus, Insulin resistance, Hyperchol... OMIM:615703
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... OMIM:262700
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibro... ORPHA:280356
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Polyphagia, Primary hyperparathyroidism, Pituita... ORPHA:97279
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hyperlipidemia, Hypoglyce... OMIM:232700
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Insulin ... ORPHA:79085
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hepatosplenomegaly, Splenomegaly, Insul... OMIM:612526
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diab... OMIM:604367
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Mody
Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly OMIM:609016
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hepatomegaly, Agitation, Hypoketotic hypoglycemia, Fasti... ORPHA:263455
Marcus Gunn Phenomenon
Congenital ptosis, Unilateral ptosis OMIM:154600
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Hyperactivity, Insulin resistanc... ORPHA:363400
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Diabetes mellitus, Hepatic steatosis OMIM:615980
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia OMIM:222100
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Insulin ... ORPHA:435660
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance OMIM:620639
Late-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating corticosteron... ORPHA:556037
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Hepatomegaly ORPHA:67046
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Decr... OMIM:610600
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating corticosteron... ORPHA:556030
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hypoglycemia,... ORPHA:79237
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Adrenal hypoplasia, Cholestasis, Adrenocorticotropic hormone defi... OMIM:201400
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Ptosis, Upslanted palpebral fissure, Epicanthus OMIM:620086
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, H... ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Hepatomegaly, Insulin resistance, Diabetes mellitus, Hep... OMIM:615381
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis, Severe short stature ORPHA:2997
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Highly arched eyebrow, Ptosis, Downslanted... ORPHA:502430
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Jaundice, A... ORPHA:913
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Splenomegaly, Ins... ORPHA:79083
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Decreased circulating ACTH co... OMIM:613986
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Increase... OMIM:615962
Myasthenic Syndrome, Congenital, 15
Ptosis OMIM:616227
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Cholestasis, Precocious puberty, Hyperglycemia, Hepatic f... OMIM:246200
Placental Insufficiency
Insulin resistance ORPHA:439167
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid... ORPHA:2457
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Glycosuria, Diabetes mellit... OMIM:617253
Glucocorticoid Deficiency 1
Abnormal circulating renin, Decreased circulating cortisol level, Abnormal circulating aldosteron... OMIM:202200
Myasthenic Syndrome, Congenital, 18
Ptosis OMIM:616330
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin resi... ORPHA:79086
Myasthenic Syndrome, Congenital, 13
Ptosis OMIM:614750
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypogonadism, Attention deficit hyperactivity disorder, Insulin resistance, Hypogl... ORPHA:73272
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypothyroidism, Hyperinsulinemic hypoglycemia, Hepatic fibrosis ORPHA:79319
Li-Campeau Syndrome
Telecanthus, Patent foramen ovale, Hypothyroidism, Ptosis, Downslanted palpebral fissures, Short ... OMIM:619189
2p15-16.1 microdeletion syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus DECIPHER:70
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Insulin-resistant diabetes... OMIM:608600
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Insulin resistance, Diabetes mell... ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, Decreased circulating ... OMIM:614736
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism... OMIM:616784
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Intrauterine growth retardation, Ptosis, Thick eyebrow, Short stature OMIM:606242
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol ... OMIM:201910
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Prolonged neonatal jaundice, De... ORPHA:199296
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u... ORPHA:1501
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia ORPHA:364
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Progressive ptosis OMIM:164300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Increas... ORPHA:90793
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Short stature, Ptosis, Elevated circulating growth hormone concentr... OMIM:608747
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Rabson-Mendenhall Syndrome
Polydipsia, Increased serum testosterone level, Fasting hypoglycemia, Impaired glucose tolerance,... ORPHA:769
Hypertrichosis Cubiti
Rhizomelia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash... ORPHA:2220
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Hypercholesterolemia, Acute pancreatitis, H... OMIM:151660
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Propionic Acidemia
Hypoglycemia, Hepatomegaly ORPHA:35
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased proinsulin:insulin rati... ORPHA:94086
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Decreased serum leptin, Decreased adiponectin l... ORPHA:435651
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Horizontal eyebrow, Ptosis, Epicanthus OMIM:619311
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Trismus-Pseudocamptodactyly Syndrome
Short stature, Ptosis ORPHA:3377
Cornelia De Lange Syndrome 2
Postnatal growth retardation, Highly arched eyebrow, Hypertrophic cardiomyopathy, Synophrys, Long... OMIM:300590
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes ... OMIM:608612
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen c... OMIM:613027
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Splenomegaly, Dysphagia, Insulin resistance... OMIM:613327
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased circulating fre... ORPHA:71212
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Increased hepatic glycogen content, He... ORPHA:369
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia ORPHA:199276
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Steatorrhea, Hyperinsulinemic hypoglycemia, Hepatic fibrosis OMIM:602579
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Hypoglycemia, Hepatic steatosis, Adrenal insufficiency OMIM:619386
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Synophrys, Ptosis, Epicanthus, Blepharophimosis ORPHA:126
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Decreased circulating cortisol level OMIM:618838
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance OMIM:214150
Glycogen Storage Disease Ixb
Hypoglycemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Delayed puberty, Postnatal growth retardation, Thyroiditis, Short stature, Decreased serum insuli... OMIM:618985
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pa... OMIM:608594
Spastic Ataxia 1, Autosomal Dominant
Ptosis OMIM:108600
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Arthrogryposis, Distal, Type 7
Short stature, Ptosis OMIM:158300
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Postprandial hyperglycemia ORPHA:2089
Pigmented Nodular Adrenocortical Disease, Primary, 2
Agitation, Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenoc... OMIM:610475
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Short stature, Ptosis, Narrow palpebral fissure, Blepharophimosis OMIM:301900
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Ptosis, Dilated cardiomyopathy, Hypergonadotropic hypogonadism ORPHA:2229
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Ptosis, Mitral valve prolapse, Disproportiona... ORPHA:2868
Microcephaly 16, Primary, Autosomal Recessive
Short stature, Ptosis, Telecanthus OMIM:616681
Diabetes And Deafness, Maternally Inherited
Ptosis, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Ptosis, Epicanthus, Short stature ORPHA:1825
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Short stature, Ptosis, Epicanthus ORPHA:1373
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Pigmented Nodular Adrenocortical Disease, Primary, 1
Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente... OMIM:610489
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level, Paraganglioma, ... OMIM:605373
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio... OMIM:168000
Whipple Disease
Polydipsia, Anorexia, Hepatomegaly, Hypothyroidism, Splenomegaly, Insulin resistance ORPHA:3452
Ascher Syndrome
Abnormal eyelid morphology, Hypothyroidism, Ptosis, Goiter, Blepharophimosis, Upper eyelid edema ORPHA:1253
Glucocorticoid Deficiency 2
Abnormal circulating renin, Decreased circulating cortisol level, Recurrent hypoglycemia, Increas... OMIM:607398
Hemochromatosis, Neonatal
Cirrhosis, Cholestasis, Hepatic fibrosis, Hepatocellular necrosis, Prolonged neonatal jaundice, H... OMIM:231100
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidism, Type I diabetes mellitus, Ab... OMIM:616113
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Short sta... OMIM:618499
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Ptosis, Short stature, Growth delay ORPHA:438178
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Decreased ci... OMIM:300845
Short Syndrome
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:269880
Intellectual Developmental Disorder, Autosomal Dominant 26
Short palpebral fissure, Highly arched eyebrow, Short stature, Ptosis, Downslanted palpebral fiss... OMIM:615834
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Decreased serum leptin, Acute pa... OMIM:269700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa... OMIM:615954
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Decreased serum leptin, Splenomegaly, Decreased... ORPHA:280365
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency OMIM:240200
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Ptosis, Dilated cardiomyopathy OMIM:300580
Short Syndrome
Insulin resistance, Diabetes mellitus ORPHA:3163
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Silver-Russell Syndrome
Precocious puberty, Hyperhidrosis, Premature adrenarche, Recurrent hypoglycemia, Insulin resistance ORPHA:813
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis, Growth delay OMIM:616154
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Ptosis ORPHA:663
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis OMIM:618197
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Hyperlipidemia, Impaired glucose tolerance, Hyperglycemia, Hyperc... OMIM:248370
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Arthrogryposis, Distal, Type 2B3
Short stature, Ptosis, Downslanted palpebral fissures OMIM:618436
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Short sta... ORPHA:638
Cornelia De Lange Syndrome 5
Postnatal growth retardation, Telecanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptos... OMIM:300882
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Neonatal insulin-de... OMIM:260370
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Hadziselimovic Syndrome
Ventricular hypertrophy, Short stature, Ptosis, Tetralogy of Fallot, Epicanthus, Atrial septal de... OMIM:612946
Ring Chromosome 1 Syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus ORPHA:1437
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral ptosis, Type I diabetes mellitus OMIM:618856
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Insulin resistance, Hyperlipidemia ORPHA:90154
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... ORPHA:96182
Mitochondrial Complex I Deficiency, Nuclear Type 16
Intrauterine growth retardation, Ptosis, Adrenal insufficiency OMIM:618238
Fetal Trimethadione Syndrome
Transposition of the great arteries, Synophrys, Ptosis, Tetralogy of Fallot, Epicanthus, Intraute... ORPHA:1913
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis OMIM:617732
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Death in infancy, Neonatal death, Decreased circulating cortisol level, Intrauter... OMIM:618839
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperlipidemia, Prima... ORPHA:189427
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Death in infancy, Neonatal death, Decreased circulating cortisol lev... OMIM:618835
Aromatase Deficiency
Hyperlipidemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus, Insulin resistance, He... ORPHA:91
Frontoocular Syndrome
Short palpebral fissure, Pulmonic stenosis, Ptosis, Epicanthus, Atrial septal defect, Upslanted p... OMIM:605321
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Atrioventricular canal defect, Highly arched eyebrow, Synophrys, Sh... OMIM:613792
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Synophrys, Short stature, Ptosis, Thick eyebrow, Blepharophimosis ORPHA:2057
Myasthenic Syndrome, Congenital, 22
Short stature, Ptosis, Decreased response to growth hormone stimulation test OMIM:616224
Congenital Arthrogryposis With Anterior Horn Cell Disease
Ptosis, Downslanted palpebral fissures, Neonatal death OMIM:611890
Autism, Susceptibility To, X-Linked 6
Ptosis OMIM:300872
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Death in infanc... OMIM:619424
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Ventricular septal hypertrophy, Abnormal a... OMIM:615280
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Telecanthus, Ptosis, Epicanthus, Blepharophimosis OMIM:277720
Coffin-Siris Syndrome 8
Ptosis, Thick eyebrow, Long eyelashes OMIM:618362
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, In... OMIM:261680
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Hypoglycemia, Pituitary prola... OMIM:131100
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, He... OMIM:203800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia ORPHA:90153
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le... ORPHA:90796
Monosomy 13Q34
Insulin resistance, Hepatic steatosis ORPHA:96168
Marbach-Rustad Progeroid Syndrome
Insulin resistance OMIM:619322
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis, Decreased response to growth hormone stimulation test, Short stature OMIM:216100
Werner Syndrome
Insulin resistance, Thyroid carcinoma, Type II diabetes mellitus, Hypogonadism ORPHA:902
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Stillbirth, Decreased circulating inhibin B concentration, Abnormal response to ... ORPHA:95699
Coffin-Siris Syndrome 5
Long eyelashes, Short stature, Ptosis, Thick eyebrow, Intrauterine growth retardation, Atrial sep... OMIM:616938
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Ptosis OMIM:616326
Proximal Xq28 Duplication Syndrome
Short stature, Ptosis, Blepharophimosis, Epicanthus ORPHA:1762
Segawa Syndrome, Autosomal Recessive
Ptosis OMIM:605407
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Short stature, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus OMIM:619989
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Insulin resistance, Diabetes mellitus OMIM:616541
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Growth delay, Ptosis, Downslanted palpebral fissures, Tetral... ORPHA:1727
Carnitine Palmitoyl Transferase 1A Deficiency
Transient hyperlipidemia, Hypoglycemia, Hepatomegaly ORPHA:156
Char Syndrome
Highly arched eyebrow, Ptosis, Thick eyebrow OMIM:169100
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Ptosis, Aortic valve stenosis, Short stature,... ORPHA:228410
Foxp1 Syndrome
Hypothyroidism, Ptosis, Downslanted palpebral fissures, Abnormal heart morphology, Diabetes melli... ORPHA:391372
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Increased circulating renin level, Central ... ORPHA:508
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia, Neoplasm o... ORPHA:2126
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Abnormality of circulating cortisol level, Short stature, Decr... ORPHA:320
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Attention deficit hyperactivity d... OMIM:620185
Gitelman Syndrome
Delayed puberty, Polydipsia, Neoplasm of the pancreas, Maternal diabetes, Graves disease, Hashimo... ORPHA:358
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Telecanthus, Ptosis, Sparse eyebrow, Thick eyebrow, Epicanthus OMIM:617268
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis, Hypogonadism ORPHA:1875
Amyotrophy, Hereditary Neuralgic
Short stature, Ptosis, Epicanthus, Upslanted palpebral fissure, Blepharophimosis OMIM:162100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ptosis OMIM:609283
Trisomy 5P
Short stature, Ptosis ORPHA:1742
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Telecanthus, Short stature, Ptosis, Mitral valve prolapse OMIM:247410
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Ptosis OMIM:614198
Chromosome Xq13 Duplication Syndrome
Short palpebral fissure, Medial flaring of the eyebrow, Highly arched eyebrow, Almond-shaped palp... OMIM:301069
11Q22.2Q22.3 Microdeletion Syndrome
Ptosis, Thick eyebrow, Epicanthus ORPHA:444002
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Patent foramen ovale, Long eyelashes, Synophrys, Ptosis, Downslanted palpe... OMIM:615009
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Almond-shaped palpebral fissure, Synophrys, Ptosis, Epicanthus, Upslanted palpebral fissure ORPHA:589905
Paroxysmal Hemicrania
Ptosis, Palpebral edema, Conjunctival hyperemia, Diabetes mellitus ORPHA:157835
Legius Syndrome
Supravalvar pulmonary stenosis, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:611431
Hypotonia-Cystinuria Syndrome
Growth delay, Ptosis, Epicanthus ORPHA:163690
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice OMIM:616483
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Ptosis, Epicanthus ORPHA:2958
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ptosis OMIM:617069
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Ectropion, S-shaped palpebral fissures, Abnormal lacrimal duct morphology, Lacrimal gland aplasia... ORPHA:572333
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Short stature, Ptosis, Dilated cardiomyopathy, Left ventricular nonc... OMIM:252011
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Ptosis, Blepharophimosis, Telecanthus OMIM:606772
Hengel-Maroofian-Schols Syndrome
Synophrys, Short stature, Ptosis, Thick eyebrow, Epicanthus, Bicuspid aortic valve OMIM:619641
Infantile Sialic Acid Storage Disease
Cardiomegaly, Ptosis, Death in childhood, Epicanthus OMIM:269920
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Ptosis OMIM:616321
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Biliary tract abnormality, Hypogonadism, Insulin resistance, Hepa... OMIM:209900
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Short sta... OMIM:615355
Autosomal Dominant Spastic Ataxia Type 1
Ptosis, Abnormal eyelid morphology ORPHA:251282
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscle... OMIM:135700
Chromosome 5Q12 Deletion Syndrome
Postnatal growth retardation, Patent foramen ovale, Long palpebral fissure, Ptosis, Epicanthus, A... OMIM:615668
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus, Synophrys ORPHA:1390
Frias Syndrome
Short stature, Ptosis, Downslanted palpebral fissures OMIM:609640
Combined Oxidative Phosphorylation Deficiency 20
Ptosis, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Prieto Syndrome
Ptosis, Epicanthus OMIM:309610
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Microphthalmia, Syndromic 13
Short stature, Ptosis OMIM:300915
Baraitser-Winter Syndrome 2
Telecanthus, Highly arched eyebrow, Long palpebral fissure, Ptosis, Short stature OMIM:614583
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Short stature ORPHA:457365
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Pituitary hypoth... OMIM:602152
Cleft Palate-Large Ears-Small Head Syndrome
Short stature, Ptosis ORPHA:2013
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Ptosis, Hypertrophic cardiomyopathy OMIM:613561
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Congenital ptosis, Hyperg... ORPHA:280679
Coffin-Siris Syndrome 3
Long eyelashes, Short stature, Ptosis, Abnormal heart morphology, Thick eyebrow, Intrauterine gro... OMIM:614608
Spinocerebellar Ataxia, Autosomal Recessive 31
Growth delay, Ptosis, Death in childhood OMIM:619422
Mcdonough Syndrome
Short stature, Ptosis, Short palpebral fissure, Synophrys ORPHA:2471
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ptosis OMIM:258470
16P12.1P12.3 Triplication Syndrome
Short palpebral fissure, Decreased response to growth hormone stimulation test, Abnormal tricuspi... ORPHA:485405
Noonan Syndrome 9
Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Short stature, Ventric... OMIM:616559
Hartsfield Syndrome
Intrauterine growth retardation, Ptosis, Downslanted palpebral fissures, Telecanthus ORPHA:2117
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis, Abnormal heart morphology ORPHA:1067
Rhyns Syndrome
Hypopituitarism, Ptosis ORPHA:140976
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypergonadot... OMIM:606407
Proteus Syndrome
Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Cluster Headache, Familial
Ptosis OMIM:119915
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Ptosis OMIM:607684
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis OMIM:617070
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Broad eyebrow, Ptosis, Abnormal heart morphology, Epicanthus, Intra... ORPHA:494344
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis, Hypocholesterolemia OMIM:610539
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Synophrys, Short stature, Ptosis, Thick eyebrow, Blepharophimosis OMIM:210745
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Dysphagia, Recurrent pancreatitis, Insulin resi... OMIM:606721
Neuropathy, Hereditary Motor And Sensory, Russe Type
Ptosis OMIM:605285
Chromosome 19Q13.11 Deletion Syndrome, Distal
Postnatal growth retardation, Short palpebral fissure, Sparse eyelashes, Ptosis, Sparse eyebrow, ... OMIM:613026
Late-Onset Isolated Acth Deficiency
Anorexia, Hypoparathyroidism, Decreased circulating ACTH concentration, Hypoglycemia, Adrenocorti... ORPHA:199299
Distal Duplication 15Q
Intrauterine growth retardation, Ptosis, Downslanted palpebral fissures, Blepharophimosis ORPHA:1707
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Ptosis, Downslanted palpebral fissures, Unilateral narrow palpebral fissure ORPHA:3038
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Diabetes mellitus, Hepatomegaly OMIM:616026
Cardiac Valvular Dysplasia, X-Linked
Short chordae tendineae of the tricuspid valve, Ptosis, Mitral valve prolapse, Bicuspid aortic va... OMIM:314400
Wolfram Syndrome 1
Diabetes insipidus, Cardiomyopathy, Hypothyroidism, Ptosis, Growth delay, Diabetes mellitus, Test... OMIM:222300
Wernicke-Korsakoff Syndrome
Ptosis OMIM:277730
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis OMIM:618637
Oculopharyngodistal Myopathy 2
Ptosis OMIM:618940
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Increased circulating free fatty acid level, Hypoglycemia, Hepatic ste... OMIM:605911
Freeman-Sheldon Syndrome
Short stature, Ptosis, Downslanted palpebral fissures, Growth delay ORPHA:2053
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Ptosis OMIM:617468
Baraitser-Winter Syndrome 1
Postnatal growth retardation, Highly arched eyebrow, Long palpebral fissure, Ptosis, Aortic valve... OMIM:243310
King-Denborough Syndrome
Bilateral ptosis, Short stature, Ptosis, Downslanted palpebral fissures, Ventricular septal defect OMIM:619542
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H... ORPHA:273
Myasthenic Syndrome, Congenital, 12
Ptosis OMIM:610542
Neonatal Adrenoleukodystrophy
Short stature, Ptosis, Primary adrenal insufficiency ORPHA:44
Noonan Syndrome 6
Bilateral ptosis, Long eyebrows, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, D... OMIM:613224
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Sparse ey... OMIM:611553
Coffin-Siris Syndrome 2
Long eyelashes, Short stature, Ptosis, Abnormal heart morphology, Thick eyebrow, Intrauterine gro... OMIM:614607
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ptosis, Type I diabetes mellitus, Death in childhood, Death in adolescence OMIM:560000
Developmental And Epileptic Encephalopathy 18
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Atrial septal defect OMIM:615476
Autosomal Dominant Optic Atrophy Plus Syndrome
Bilateral ptosis, Diabetes mellitus, Cardiomyopathy ORPHA:1215
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Hypothyroidism, Ptosis, Short stature, Hypogonadism, Dilated cardiom... ORPHA:254913
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Ptosis, Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus OMIM:609286
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Ptosis, Downslanted palpebral fissures, Growth delay, Intrauterine growth retardat... OMIM:617333
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Horizontal eyebrow, Ptosis, Short stature, Abnormal heart morphology, Epica... ORPHA:369891
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis ORPHA:330054
Kearns-Sayre Syndrome
Hypoparathyroidism, Cardiomyopathy, Short stature, Ptosis, Primary adrenal insufficiency, Diabete... OMIM:530000
Frontofacionasal Dysplasia
Upper eyelid coloboma, Telecanthus, Limbal dermoid, Short stature, Ptosis, Aplasia/Hypoplasia of ... ORPHA:1791
Chromosome 2P16.1-P15 Deletion Syndrome
Postnatal growth retardation, Short palpebral fissure, Telecanthus, Short stature, Ptosis, Downsl... OMIM:612513
Mitochondrial Dna Depletion Syndrome 11
Ptosis, Dilated cardiomyopathy, Hypergonadotropic hypogonadism OMIM:615084
Myasthenic Syndrome, Congenital, 10
Ptosis OMIM:254300
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Adrenal hyperp... ORPHA:786
Neuroblastoma
Elevated circulating catecholamine level, Horner syndrome ORPHA:635
Terminal Osseous Dysplasia
Ptosis, Upslanted palpebral fissure, Telecanthus, Epicanthus OMIM:300244
Intellectual Developmental Disorder, Autosomal Dominant 23
Ptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Synophrys OMIM:615761
Ophthalmoplegia, External, And Myopia
Ptosis OMIM:311000
Intellectual Developmental Disorder With Autism And Macrocephaly
Ptosis, Downslanted palpebral fissures OMIM:615032
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Decreased circulating cortis... ORPHA:90790
Mosaic Trisomy 14
Ptosis, Blepharophimosis ORPHA:1703
Deafness, X-Linked 7
Ptosis, Thick eyebrow, Telecanthus OMIM:301018
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Ptosis OMIM:616324
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ptosis, Death in childhood OMIM:618225
9Q21.13 Microdeletion Syndrome
Long palpebral fissure, Ptosis, Abnormal heart morphology, Postnatal growth retardation ORPHA:531151
Sifrim-Hitz-Weiss Syndrome
Short palpebral fissure, Short stature, Ptosis, Tetralogy of Fallot, Epicanthus, Atrial septal de... OMIM:617159
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Ptosis, Downslanted palpebral fissures, Shor... ORPHA:1131
Congenital Disorder Of Glycosylation, Type Iio
Ptosis, Downslanted palpebral fissures, Hypercholesterolemia OMIM:616828
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short palpebral fissure, Telecanthus, Highly arched eyebrow, Short stature, Ptosis, Thick eyebrow... OMIM:617360
Oculopharyngeal Muscular Dystrophy
Ptosis ORPHA:270
Warburg Micro Syndrome 1
Short stature, Ptosis OMIM:600118
Cardiofaciocutaneous Syndrome 2
Ptosis, Mitral valve prolapse, Absent eyebrow OMIM:615278
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Ptosis OMIM:616322
Oculopharyngeal Muscular Dystrophy 2
Ptosis OMIM:620460
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Ptosis, Blepharophimosis, Telecanthus ORPHA:397973
Spinocerebellar Ataxia Type 28
Ptosis ORPHA:101109
Riboflavin Transporter Deficiency
Ptosis, Hypogonadism, Diabetes insipidus ORPHA:97229
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Elevated circulating parathyroid hormone level, Long palpebral fiss... ORPHA:439822
Spinocerebellar Ataxia, Autosomal Recessive 13
Short stature, Ptosis OMIM:614831
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ptosis OMIM:254210
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Ptosis OMIM:616325
Blepharophimosis-Impaired Intellectual Development Syndrome
Highly arched eyebrow, Synophrys, Sparse eyelashes, Long eyelashes, Ptosis, Sparse eyebrow, Thick... OMIM:619293
Tetrasomy 12P
Telecanthus, Short stature, Ptosis, Sparse eyebrow, Upslanted palpebral fissure ORPHA:884
Noonan Syndrome 4
Bilateral ptosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted palpebral f... OMIM:610733
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis ORPHA:2743
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Telecanthus, Highly arched eyebrow, Absent eyelashes, Ptosis, Absent lacrimal punctum, Thick eyebrow ORPHA:228396
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ptosis, Dilated cardiomyopathy, Hypergonadotropic hypogonadism ORPHA:352447
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Abnormal aortic valve morphology, Multiple pterygia, Tel... ORPHA:2990
Sclerosteosis
Ptosis ORPHA:3152
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hypertriglyceridemia, Hyperinsulinemia, Glycosuri... ORPHA:79474
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Ptosis ORPHA:324262
Weiss-Kruszka Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Dextrotransposition of the great a... OMIM:618619
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ptosis OMIM:605809
Non-Functioning Pituitary Adenoma
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... ORPHA:91349
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Tyshchenko Syndrome
Pulmonic stenosis, Ptosis, Short stature, Intrauterine growth retardation, Atrial septal defect, ... OMIM:615102
Fazio-Londe Disease
Ptosis OMIM:211500
Stickler Syndrome, Type Vi
Ptosis, Downslanted palpebral fissures OMIM:620022
Aarskog-Scott Syndrome
Delayed puberty, Short stature, Ptosis, Downslanted palpebral fissures, Elevated circulating foll... OMIM:305400
Arthrogryposis, Distal, Type 5
Short stature, Ptosis, Blepharophimosis, Epicanthus OMIM:108145
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Short palpebral fissure, Decreased response to growth hormone stimulation test, ... OMIM:615866
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Ptosis, Cardiomyopathy OMIM:619566
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Ptosis, Death in adolescence, Long eyelashes OMIM:619076
Short Stature And Facioauriculothoracic Malformations
Ptosis, Ventricular septal defect, Proportionate short stature OMIM:609654
Keipert Syndrome
Short stature, Ptosis, Epicanthus ORPHA:2662
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short stature, Ptosis, Cardiomyopathy OMIM:616549
Craniosynostosis 3
Ptosis OMIM:615314
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Ptosis, Dilated cardiomyopathy, Cardiomyopathy, Hypergonadotropic hypogonadism OMIM:212112
Borjeson-Forssman-Lehmann Syndrome
Short stature, Ptosis, Thick eyebrow, Hypogonadism, Blepharophimosis ORPHA:127
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ptosis OMIM:608930
Myasthenic Syndrome, Congenital, 5
Ptosis OMIM:603034
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Hypothyroidism, Ptosis, Left ventricular hypertrophy, Cardiomegaly, Intrauterine ... OMIM:617713
Chromosome 3Q13.31 Deletion Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:615433
4Q21 Microdeletion Syndrome
Synophrys, Growth delay, Ptosis, Long eyelashes, Intrauterine growth retardation ORPHA:238750
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Ptosis, Patent foramen ovale OMIM:615156
Distal Duplication 6P
Abnormal eyelash morphology, Short stature, Ptosis, Intrauterine growth retardation, Blepharophim... ORPHA:1745
Bloom Syndrome
Insulin resistance, Diabetes mellitus ORPHA:125
Combined Oxidative Phosphorylation Deficiency 47
Intrauterine growth retardation, Ptosis OMIM:618958
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Ptosis, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscles, Superio... OMIM:600638
Monosomy 18P
Hypothyroidism, Ptosis, Epicanthus, Short stature ORPHA:1598
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:616801
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ptosis, Cardiomyopathy, Death in infancy OMIM:619046
Addison Disease
Delayed puberty, Anorexia, Hypoparathyroidism, Adrenal hypoplasia, Androgen insufficiency, Hypogl... ORPHA:85138
Wagr Syndrome
Short stature, Ptosis ORPHA:893
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Growth delay, Ptosis, Downslanted palpebral fissures, Epicanthus, Upslanted palpebral fissure OMIM:618659
Fetal Alcohol Syndrome
Telecanthus, Short stature, Ptosis, Epicanthus, Intrauterine growth retardation, Atrial septal de... ORPHA:1915
Aase-Smith Syndrome I
Ptosis, Ventricular septal defect, Death in infancy OMIM:147800
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Ptosis, Thick eyebrow, Upslanted palpebral fissure OMIM:620535
Ververi-Brady Syndrome
Transposition of the great arteries, Short stature, Ptosis, Intrauterine growth retardation, Upsl... OMIM:617982
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Telecanthus, Highly arched eyebrow, Ptosis, Epicanthus ... OMIM:110100
Congenital Myopathy With Myasthenic-Like Onset
Ptosis ORPHA:424107
Coenzyme Q10 Deficiency, Primary, 4
Ptosis OMIM:612016
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Short stature, Ptosis, Right ventricular hypertrophy, Atrial septal defect,... OMIM:614261
Non-Distal Deletion 10Q
Ptosis, Upslanted palpebral fissure, Epicanthus, Synophrys ORPHA:1581
Aromatic L-Amino Acid Decarboxylase Deficiency
Short stature, Ptosis, Increased circulating prolactin concentration ORPHA:35708
Congenital Myopathy 6 With Ophthalmoplegia
Ptosis OMIM:605637
Joubert Syndrome 3
Highly arched eyebrow, Ptosis, Atrial septal defect, Epicanthus OMIM:608629
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis, Severe short stature ORPHA:2617
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ptosis OMIM:601462
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Ptosis, Upslanted palpebral fissure, Synophrys OMIM:616083
Shashi-Pena Syndrome
Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis, Epicanthus, Intrauterine growth retarda... OMIM:617190
Mitochondrial Complex I Deficiency, Nuclear Type 5
Growth delay, Ptosis OMIM:618226
Spinal Muscular Atrophy, X-Linked 2
Ptosis OMIM:301830
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis, Abnormal eyebrow morphology, Severe short stature, Intrauterine gr... ORPHA:2319
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Synophrys, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Epicanthus, Atrial septal defec... OMIM:617061
Neuropathy, Congenital Hypomyelinating, 3
Ptosis, Neonatal death, Epicanthus OMIM:618186
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Ptosis OMIM:616313
Emanuel Syndrome
Hooded eyelid, Truncus arteriosus, Pulmonic stenosis, Ptosis, Aortic valve stenosis, Growth delay... ORPHA:96170
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Short stature, Ptosis, Downslanted palpebral fissures, Hypogonadotropic hypogonadism ORPHA:3068
Congenital Myopathy 4A, Autosomal Dominant
Ptosis, Dilated cardiomyopathy OMIM:255310
Frontonasal Dysplasia 1
Ptosis, Tetralogy of Fallot, Epicanthus OMIM:136760
Ohdo Syndrome
Short stature, Ptosis, Sparse eyebrow, Epicanthus, Blepharophimosis OMIM:249620
Marcus-Gunn Syndrome
Postnatal growth retardation, Unilateral ptosis, Abnormal heart morphology ORPHA:91412
Waardenburg Syndrome Type 2
Ptosis, Telecanthus ORPHA:895
Ruvalcaba Syndrome
Delayed puberty, Ptosis, Downslanted palpebral fissures, Intrauterine growth retardation ORPHA:3121
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Ptosis, Intrauterine growth retardation, Atrial septal defect, Blep... ORPHA:2728
Autosomal Recessive Progressive External Ophthalmoplegia
Ptosis, Cardiomyopathy ORPHA:254886
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ptosis OMIM:608931
Spinocerebellar Ataxia 47
Short stature, Ptosis OMIM:617931
Joubert Syndrome 35
Highly arched eyebrow, Ptosis, Telecanthus, Synophrys OMIM:618161
Von Hippel-Lindau Disease
Myocarditis, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Retinal capillary hemangioma, ... ORPHA:892
Myoclonus, Intractable, Neonatal
Ptosis OMIM:617235
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ptosis OMIM:125250
Trisomy 17P
Broad eyebrow, Aortic valve stenosis, Ptosis, Downslanted palpebral fissures, Short stature, Grow... ORPHA:261290
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Ptosis, Blepharophimosis, Epicanthus ORPHA:3236
Spinocerebellar Ataxia, Autosomal Recessive 32
Ptosis OMIM:619862
Noonan Syndrome 13
Broad eyebrow, Highly arched eyebrow, Almond-shaped palpebral fissure, Ptosis, Downslanted palpeb... OMIM:619087
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Ptosis OMIM:619465
Muenke Syndrome
Short stature, Ptosis, Downslanted palpebral fissures OMIM:602849
Teebi Hypertelorism Syndrome 2
Ptosis, Thick eyebrow, Upper eyelid coloboma OMIM:619736
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Aarskog-Scott Syndrome
Short stature, Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:915
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Short stature, Ptosis, Growth delay, Epicanthus, Lacrimal duct stenosis, Ve... ORPHA:457193
Congenital Myopathy 5 With Cardiomyopathy
Ptosis, Dilated cardiomyopathy OMIM:611705
Koolen-De Vries Syndrome
Hypothyroidism, Ptosis, Short stature, Epicanthus, Bicuspid aortic valve, Upslanted palpebral fis... ORPHA:96169
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Intrauterine growth retardation, Lacrimal... ORPHA:73246
Marden-Walker Syndrome
Postnatal growth retardation, Dextrocardia, Ptosis, Epicanthus, Intrauterine growth retardation, ... OMIM:248700
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Short stature, Ptosis, Growth delay ORPHA:363429
Dermoodontodysplasia
Ptosis, Abnormal eyelid morphology ORPHA:1660
Acrofrontofacionasal Dysostosis
Short stature, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Aplasia/Hypoplasia of the... ORPHA:1784
Oculopharyngodistal Myopathy 3
Ptosis OMIM:619473
Codas Syndrome
Short stature, Ptosis, Ventricular septal defect, Epicanthus ORPHA:1458
Childhood-Onset Nemaline Myopathy
Ptosis, Cardiomyopathy ORPHA:171439
Congenital Myopathy 19
Ptosis OMIM:618578
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Growth delay, Ptosis ORPHA:70594
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis, Severe short stature ORPHA:2511
Myopathy, Centronuclear, 2
Intrauterine growth retardation, Ptosis OMIM:255200
Adult Intestinal Botulism
Ptosis ORPHA:178487
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:99226
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Thyroiditis, Hepatic fib... ORPHA:881
Spinocerebellar Ataxia With Epilepsy
Ptosis ORPHA:254881
Spinocerebellar Ataxia, Autosomal Recessive 8
Ptosis OMIM:610743
Kury-Isidor Syndrome
Growth delay, Ptosis, Downslanted palpebral fissures, Ventricular septal defect OMIM:619762
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis, Severe short stature OMIM:210700
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Sparse ey... OMIM:616564
3Mc Syndrome 1
Postnatal growth retardation, Telecanthus, Highly arched eyebrow, Synophrys, Conjunctival telangi... OMIM:257920
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis OMIM:619972
Richieri-Costa/Guion-Almeida Syndrome
Short stature, Ptosis, Downslanted palpebral fissures, Eyelid coloboma OMIM:268850
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Ptosis ORPHA:1154
Prolactinoma
Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy... ORPHA:2965
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Ptosis, Diabetes mellitus, Hypogonadism ORPHA:98673
Mesomelia-Synostoses Syndrome
Telecanthus, Short stature, Ptosis, Downslanted palpebral fissures, Abnormal eyebrow morphology ORPHA:2496
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Ptosis, Hypogonadism, Adrenal insufficiency OMIM:617575
Parkinsonism-Dystonia 2, Infantile-Onset
Ptosis OMIM:618049
Auriculocondylar Syndrome 2A
Ptosis OMIM:614669
Developmental And Epileptic Encephalopathy 84
Short palpebral fissure, Synophrys, Ptosis, Epicanthus, Blepharophimosis OMIM:618792
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Myopathy With Extrapyramidal Signs
Growth delay, Ptosis, Ventricular septal defect, Epicanthus OMIM:615673
Wiedemann-Steiner Syndrome
Postnatal growth retardation, Short palpebral fissure, Decreased response to growth hormone stimu... ORPHA:319182
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Bilateral ptosis, Ptosis OMIM:616479
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Highly arched eyebrow, Laterally extended eyebrow, Synophrys, Long eyelashes, Ptos... OMIM:610759
Mitochondrial Neurogastrointestinal Encephalomyopathy
Ptosis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Abnormality of the extraoc... ORPHA:298
Congenital Myopathy 22A, Classic
Bilateral ptosis, Synophrys, Ptosis, Downslanted palpebral fissures, Neonatal death OMIM:620351
Spinocerebellar Ataxia 28
Ptosis OMIM:610246
Buratti-Harel Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus, Sparse medial eyebrow, Atrial septal defect OMIM:619314
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Ptosis ORPHA:1473
2P15P16.1 Microdeletion Syndrome
Telecanthus, Long eyelashes, Growth delay, Ptosis, Downslanted palpebral fissures, Sparse eyebrow... ORPHA:261349
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Intellectual Disability-Developmental Delay-Contractures Syndrome
Ptosis ORPHA:3454
Bardet-Biedl Syndrome
Hypertriglyceridemia, Impaired fasting glucose, Abnormality of the endocrine system, Hypoplasia o... ORPHA:110
Lymphedema-Distichiasis Syndrome
Ectropion, Distichiasis, Ptosis, Conjunctivitis, Diabetes mellitus ORPHA:33001
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Ptosis OMIM:608423
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ptosis OMIM:312170
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Ptosis, Downslanted palpebral fissures OMIM:616355
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Ptosis, Downslanted palpebral fissures, Long eyelashes OMIM:617523
Joubert Syndrome 14
Highly arched eyebrow, Growth delay, Ptosis, Downslanted palpebral fissures, Epicanthus, Ventricu... OMIM:614424
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse eyelashes, Ptosis, Downslanted palpebral fissures, Blepharophimosis OMIM:619075
Axial Spondylometaphyseal Dysplasia
Short stature, Ptosis, Growth delay, Disproportionate short-trunk short stature, Mild postnatal g... ORPHA:168549
Myopathy, Centronuclear, 1
Ptosis OMIM:160150
Combined Oxidative Phosphorylation Deficiency 32
Ptosis, Death in infancy OMIM:617664
Non-Specific Early-Onset Epileptic Encephalopathy
Short stature, Ptosis, Downslanted palpebral fissures ORPHA:442835
Inclusion Body Myopathy And Brain White Matter Abnormalities
Ptosis OMIM:619733
Waardenburg Syndrome Type 1
Telecanthus, Synophrys, Ptosis, Thick eyebrow, White eyelashes, White eyebrow ORPHA:894
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Autosomal Recessive Dopa-Responsive Dystonia
Ptosis ORPHA:101150
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ptosis, Palpebral edema ORPHA:1259
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Synophrys, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Thick eyebrow, Epicanthus, Ups... OMIM:620098
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Ptosis OMIM:618731
Fetal Hydantoin Syndrome
Intrauterine growth retardation, Ptosis, Epicanthus, Short stature ORPHA:1912
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Ptosis OMIM:618155
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus, Epicanthus ORPHA:1778
Fountain Syndrome
Synophrys, Short stature, Ptosis, Thick eyebrow, Epicanthus ORPHA:3219
Rubinstein-Taybi Syndrome
Telecanthus, Highly arched eyebrow, Short stature, Ptosis, Downslanted palpebral fissures, Epican... ORPHA:783
3Mc Syndrome
Postnatal growth retardation, Telecanthus, Highly arched eyebrow, Ptosis, Downslanted palpebral f... ORPHA:293843
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Ptosis ORPHA:1933
Myasthenic Syndrome, Congenital, 14
Ptosis OMIM:616228
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Atrioventricular canal defect, Hypertrophic cardiomyopathy, Pulm... ORPHA:500
Schwartz-Jampel Syndrome, Type 1
Short stature, Ptosis, Long eyelashes in irregular rows, Narrow palpebral fissure, Blepharophimosis OMIM:255800
Goldberg-Shprintzen Megacolon Syndrome
Short stature, Ptosis, Sparse eyebrow ORPHA:66629
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Long palpebral fissure, Ptosis, Atrial septal defect, Ventricular septal defect OMIM:603387
Leukodystrophy, Hypomyelinating, 20
Ptosis OMIM:619071
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Telecanthus, Sparse lateral eyebrow, Ptosis, Downslanted palpebral fissures, Abnormal heart morph... ORPHA:314655
Proximal Myopathy With Extrapyramidal Signs
Ptosis ORPHA:401768
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Ptosis, Hashimoto thyroiditis, Short stature, Type I diabetes mellitus OMIM:613385
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short stature, Ptosis, Epicanthus ORPHA:1185
Beck-Fahrner Syndrome
Cardiomegaly, Ptosis, Lacrimal duct stenosis, Ventricular septal defect OMIM:618798
Intellectual Developmental Disorder, Autosomal Recessive 65
Ptosis, Downslanted palpebral fissures, Secundum atrial septal defect, Atrial septal defect OMIM:618109
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Myasthenia Gravis
Ptosis, Thymoma, Abnormality of the endocrine system OMIM:254200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bilateral ptosis, Cardiomyopathy, Ptosis, Mitral valve prolapse OMIM:258450
Refsum Disease, Classic
Cardiomegaly, Ptosis, Cardiomyopathy OMIM:266500
Takenouchi-Kosaki Syndrome
Highly arched eyebrow, Synophrys, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Spar... OMIM:616737
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Ptosis, Tortuosity of conjunctival vessels ORPHA:284289
Kaufman Oculocerebrofacial Syndrome
Telecanthus, Hypocholesterolemia, Short stature, Ptosis, Sparse eyebrow, Epicanthus, Atrial septa... OMIM:244450
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Postnatal growth retardation, Abnormality of the endocrine system, Highly arched eyebrow, Total a... ORPHA:487796
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis ORPHA:2064
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Ptosis, Downslanted palpebral fissures OMIM:618736
Acrofrontofacionasal Dysostosis 2
Short stature, Ptosis, Downslanted palpebral fissures OMIM:239710
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Ptosis OMIM:618098
2Q31.1 Microdeletion Syndrome
Short palpebral fissure, Synophrys, Abnormality of the hypothalamus-pituitary axis, Ptosis, Downs... ORPHA:251014
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short stature, Ptosis ORPHA:2522
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Multiple pterygia, Short stature, Ptosis, Downslanted palpebral fissures, An... OMIM:178110
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrioventricular canal defect, Shallow orbits, Long palpebral fissure, Ptosis, Hypothyroidism, Ab... ORPHA:453499
Cardiofaciocutaneous Syndrome
Sparse or absent eyelashes, Abnormal heart valve morphology, Abnormal eyelash morphology, Hypertr... ORPHA:1340
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ptosis, Atrial septal defect, Ventricular septal defect, Epicanthus OMIM:220500
Myasthenic Syndrome, Congenital, 24, Presynaptic
Ptosis OMIM:618198
Spinocerebellar Ataxia 50
Ptosis OMIM:620158
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Growth delay, Ptosis, Secundum atrial septal defect, Upslanted palpebral fissure OMIM:619758
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Growth delay, Ptosis, Upslanted palpebral fissure, Epicanthus OMIM:300260
Distal Deletion 3P
Atrioventricular canal defect, Telecanthus, Short stature, Ptosis, Epicanthus, Intrauterine growt... ORPHA:1620
Coach Syndrome 3
Ptosis OMIM:619113
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Thyroid crisis... ORPHA:91347
Joubert Syndrome
Highly arched eyebrow, Ptosis, Situs inversus totalis, Abnormality of the hypothalamus-pituitary ... ORPHA:475
Oculopharyngodistal Myopathy 4
Ptosis OMIM:619790
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Highly arched eyebrow, Ptosis, Long palpebral fissure OMIM:620469
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short stature, Ptosis OMIM:606220
Nager Syndrome
Ptosis, Downslanted palpebral fissures, Sparse lower eyelashes, Aplasia/Hypoplasia of the eyebrow... ORPHA:245
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Short stature, Ptosis, Thick eyebrow, Mitral valve prolapse, Lef... ORPHA:230851
Arthrogryposis, Distal, Type 2A
Postnatal growth retardation, Telecanthus, Ptosis, Epicanthus, Blepharophimosis OMIM:193700
Glycogen Storage Disease Ic
Delayed puberty, Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hepatocellular carcinoma, Hyper... OMIM:232240
Char Syndrome
Ptosis, Downslanted palpebral fissures, Ventricular septal defect ORPHA:46627
Intellectual Developmental Disorder, Autosomal Dominant 56
Ptosis, Upslanted palpebral fissure OMIM:617854
20Q11.2 Microduplication Syndrome
Palpebral edema, Severe intrauterine growth retardation, Growth delay, Ptosis, Downslanted palpeb... ORPHA:363659
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Ptosis, Abnormal mitral valve morphology, Abnormality of the thyroid gland ORPHA:1969
Warburg Micro Syndrome 4
Short stature, Ptosis, Severe postnatal growth retardation OMIM:615663
Wieacker-Wolff Syndrome
Short stature, Ptosis, Upslanted palpebral fissure OMIM:314580
Joubert Syndrome 37
Short stature, Ptosis OMIM:619185
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Ptosis, Dextrocardia, Abnormality of the hypothalamus-pituitary axis ORPHA:220493
Cenani-Lenz Syndrome
Hypothyroidism, Ectropion, Downslanted palpebral fissures, Ptosis ORPHA:3258
Noonan Syndrome 3
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, P... OMIM:609942
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Highly arched eyebrow, Ptosis, Upslanted palpebral fissure, Epicanthus inversus ORPHA:2988
Baraitser-Winter Cerebrofrontofacial Syndrome
Palpebral edema, Telecanthus, Highly arched eyebrow, Euryblepharon, Long palpebral fissure, Ptosi... ORPHA:2995
Crouzon Syndrome
Ptosis, Conjunctivitis ORPHA:207
Pontocerebellar Hypoplasia, Type 16
Ptosis OMIM:619527
Intestinal Botulism
Ptosis, Death in infancy ORPHA:178481
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Ectropion, Cardiomyopathy, Short stature, Ptosis ORPHA:98907
Birk-Landau-Perez Syndrome
Long eyelashes, Growth delay, Ptosis, Intrauterine growth retardation, Upslanted palpebral fissure OMIM:617595
Coffin-Siris Syndrome
Postnatal growth retardation, Ventricular septal defect, Papillary thyroid carcinoma, Growth dela... ORPHA:1465
Primary Hepatic Neuroendocrine Carcinoma
Ptosis, Carcinoid tumor, Increased serum serotonin, Neuroendocrine neoplasm ORPHA:100085
Koolen-De Vries Syndrome
Intrauterine growth retardation, Pulmonic stenosis, Ptosis, Short stature, Epicanthus, Bicuspid a... OMIM:610443
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ptosis, Death in childhood OMIM:615838
Congenital Myopathy 1B, Autosomal Recessive
Ptosis OMIM:255320
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Pancreatic adenocarcinoma, Pancreatic endocrine tumor, Pheochromocytoma, Increased urin... ORPHA:99889
Frontotemporal Dementia With Motor Neuron Disease
Ptosis ORPHA:275872
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Telecanthus, Cardiomyopathy, Ptosis, Blepharophimosis, Abnormal cardiac ... OMIM:217980
Meckel Syndrome, Type 10
Ptosis, Narrow palpebral fissure, Epicanthus OMIM:614175
Pyruvate Dehydrogenase E2 Deficiency
Ptosis OMIM:245348
Developmental And Epileptic Encephalopathy 110
Ptosis OMIM:620149
Noonan Syndrome 2
Atrioventricular canal defect, Telecanthus, Patent foramen ovale, Cardiomyopathy, Hypertrophic ca... OMIM:605275
Joubert Syndrome 30
Ptosis OMIM:617622
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Isolated Complex I Deficiency
Intrauterine growth retardation, Ptosis, Diabetes mellitus, Hypertrophic cardiomyopathy ORPHA:2609
Orthostatic Hypotension 1
Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Intrauterine growth retardation, Ptosis, Short stature ORPHA:1323
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Ptosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Ptosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:98853
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Ptosis OMIM:218000
Arthrogryposis, Distal, Type 1A
Short stature, Ptosis OMIM:108120
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Highly arched eyebrow, Patent foramen ovale, Hypertrophic cardiomyopathy, S... OMIM:617506
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Ptosis OMIM:615351
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Ptosis, Epicanthus, Long eyelashes, Broad lateral eyebrow OMIM:608624
Spastic Ataxia 5, Autosomal Recessive
Ptosis OMIM:614487
Maternal Phenylketonuria
Bilateral ptosis, Abnormal heart morphology, Tetralogy of Fallot, Epicanthus, Double outlet right... ORPHA:2209
Dworschak-Punetha Neurodevelopmental Syndrome
Sparse lateral eyebrow, Ptosis OMIM:619955
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Highly arche... OMIM:213980
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Ptosis ORPHA:93262
Myhre Syndrome
Short palpebral fissure, Precocious puberty, Ptosis, Severe short stature, Hypogonadism, Intraute... ORPHA:2588
X-Linked Intellectual Disability Due To Gria3 Mutations
Short stature, Ptosis, Eversion of lateral third of lower eyelids ORPHA:364028
Hutchinson-Gilford Progeria Syndrome
Pubertal developmental failure in females, Decreased serum leptin, Delayed menarche, Female hypog... ORPHA:740
Cushing Disease
Increased urinary cortisol level, Impaired glucose tolerance, Adrenal hyperplasia, Pituitary cort... ORPHA:96253
Acrocraniofacial Dysostosis
Short stature, Ptosis, Downslanted palpebral fissures, Telecanthus ORPHA:949
Liver Disease, Severe Congenital
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Portal infl... OMIM:619991
Basel-Vanagaite-Smirin-Yosef Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus, Atrial septal defect, Ventricular septal defect OMIM:616449
Dubowitz Syndrome
Postnatal growth retardation, Short palpebral fissure, Telecanthus, Sparse lateral eyebrow, Ptosi... OMIM:223370
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ptosis OMIM:618170
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Short stature, Ptosis, Severe short stature, Mild short stature OMIM:309900
Oculogastrointestinal Muscular Dystrophy
Ptosis, Abnormal mitral valve morphology ORPHA:1876
Six2-Related Frontonasal Dysplasia
Short stature, Ptosis, Epicanthus inversus, Intrauterine growth retardation ORPHA:488437
Leigh Syndrome
Ptosis OMIM:256000
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Ptosis, Lagophthalmos, Short stature OMIM:615065
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ptosis ORPHA:313772
Congenital Disorder Of Glycosylation, Type 2V
Narrow palpebral fissure, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:619493
Wieacker-Wolff Syndrome, Female-Restricted
Short stature, Ptosis OMIM:301041
Gabriele-De Vries Syndrome
Telecanthus, Patent foramen ovale, Epiblepharon, Ptosis, Downslanted palpebral fissures, Sparse e... OMIM:617557
3Mc Syndrome 3
Highly arched eyebrow, Short stature, Ptosis, Growth delay, Epicanthus inversus, Blepharophimosis OMIM:248340
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Short stature, Ptosis, Growth delay, Thick... OMIM:616007
Congenital Myasthenic Syndromes With Glycosylation Defect
Ptosis ORPHA:353327
Branchio-Oculo-Facial Syndrome
Short stature, Ptosis, Intrauterine growth retardation, Upslanted palpebral fissure, Nasolacrimal... ORPHA:1297
Good Syndrome
Aplasia/Hypoplasia of the thymus, Ptosis, Diabetes mellitus, Thymoma ORPHA:169105
Leopard Syndrome 1
Delayed puberty, Hypoplasia of the ovary, Delayed menarche, Hypertrophic cardiomyopathy, Pulmonic... OMIM:151100
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Ptosis, Abnormality of the hypothalamus-pituitary axis ORPHA:2318
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Ptosis, Mitral valve prolapse, Abnormal cardiac septum morphology ORPHA:2712
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Ptosis OMIM:618451
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Short stature, Ptosis OMIM:612073
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Ptosis, Blepharophimosis ORPHA:2031
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Ptosis, Hypertrophic cardiomyopathy ORPHA:98863
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Absent eyelashes, Hypertrophic cardiomyopathy, Absent eyebrow, Pulmonic ste... OMIM:115150
Joubert Syndrome 7
Ptosis OMIM:611560
Autosomal Dominant Centronuclear Myopathy
Ptosis, Miscarriage ORPHA:169189
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Ptosis, Abnormality of the hypothalamus-pituitary axis ORPHA:220497
Ehlers-Danlos Syndrome, Classic-Like, 2
Bilateral ptosis, Mitral valve prolapse, Ptosis, Thin eyebrow OMIM:618000
Kallmann Syndrome
Delayed puberty, Anterior hypopituitarism, Ptosis, Hypogonadotropic hypogonadism, Hypothalamic go... ORPHA:478
Arthrogryposis, Distal, Type 3
Short stature, Ptosis, Epicanthus OMIM:114300
Lateral Meningocele Syndrome
Telecanthus, Short stature, Ptosis, Downslanted palpebral fissures, Bicuspid aortic valve, Ventri... OMIM:130720
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Highly arched eyebrow, Ptosis, Epicanthus, Atrial septa... OMIM:620662
Trichohepatoneurodevelopmental Syndrome
Ectropion, Steatorrhea, Almond-shaped palpebral fissure, Synophrys, Ptosis, Long eyelashes, Hypot... OMIM:618268
Myasthenia, Limb-Girdle, Autoimmune
Ptosis, Hashimoto thyroiditis, Thymoma OMIM:159400
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Primary hypothyroidism, Hyperlipidemia, Sple... ORPHA:64
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Ptosis OMIM:243180
Myopathy, Myofibrillar, 8
Ptosis OMIM:617258
Helsmoortel-Van Der Aa Syndrome
Bilateral ptosis, Short palpebral fissure, Decreased response to growth hormone stimulation test,... OMIM:615873
Congenital Multicore Myopathy With External Ophthalmoplegia
Severe postnatal growth retardation, Ptosis ORPHA:98905
Autosomal Recessive Robinow Syndrome
Abnormal tricuspid valve morphology, Disproportionate short-limb short stature, Long eyelashes, L... ORPHA:1507
Goldberg-Shprintzen Syndrome
Telecanthus, Highly arched eyebrow, Synophrys, Ptosis, Downslanted palpebral fissures, Thick eyeb... OMIM:609460
Postsynaptic Congenital Myasthenic Syndromes
Ptosis ORPHA:98913
Carey-Fineman-Ziter Syndrome
Short stature, Ptosis, Downslanted palpebral fissures, Growth delay, Epicanthus ORPHA:1358
Holoprosencephaly
Anterior hypopituitarism, Diabetes insipidus, Highly arched eyebrow, Panhypopituitarism, Ventricu... ORPHA:2162
Jacobsen Syndrome
Telecanthus, Abnormal eyelash morphology, Ptosis, Eyelid coloboma, Epicanthus, Intrauterine growt... OMIM:147791
Chromosome 17P13.1 Deletion Syndrome
Telecanthus, Highly arched eyebrow, Synophrys, Ptosis, Downslanted palpebral fissures, Epicanthus... OMIM:613776
Multiple Pterygium Syndrome, Escobar Variant
Bilateral ptosis, Axillary pterygium, Popliteal pterygium, Pterygium, Neck pterygia, Short statur... OMIM:265000
3Mc Syndrome 2
Postnatal growth retardation, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Epic... OMIM:265050
Myasthenia Gravis
Ptosis, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymus mo... ORPHA:589
Jacobsen Syndrome
Ectropion, Death in infancy, Aortic valve stenosis, Ptosis, Downslanted palpebral fissures, Short... ORPHA:2308
Dubowitz Syndrome
Postnatal growth retardation, Hypoparathyroidism, Telecanthus, Sparse lateral eyebrow, Ptosis, Sh... ORPHA:235
Acromelic Frontonasal Dysplasia
Hypopituitarism, Ptosis, Anterior pituitary hypoplasia, Telecanthus ORPHA:1827
Carey-Fineman-Ziter Syndrome 1
Growth delay, Ptosis, Downslanted palpebral fissures, Lagophthalmos, Epicanthus, Abnormal cardiac... OMIM:254940
Frontorhiny
Hypopituitarism, Ptosis, Epicanthus, Diabetes insipidus ORPHA:391474
Craniosynostosis 6
Ptosis OMIM:616602
Loeys-Dietz Syndrome 5
Patent foramen ovale, Long palpebral fissure, Ptosis, Downslanted palpebral fissures, Short statu... OMIM:615582
Vici Syndrome
Postnatal growth retardation, Atrial septal defect, Cardiomyopathy, Ptosis, Epicanthus, Left vent... OMIM:242840
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Ptosis ORPHA:137898
Phelan-Mcdermid Syndrome
Palpebral edema, Long eyelashes, Ptosis, Thick eyebrow, Epicanthus, Ventricular septal defect OMIM:606232
Intellectual Developmental Disorder, Autosomal Dominant 57
Telecanthus, Short stature, Ptosis, Epicanthus, Upslanted palpebral fissure, Blepharophimosis OMIM:618050
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Postnatal growth retardation, Highly arched eyebrow, Aortic valve stenosis, Ptosis, Downslanted p... OMIM:613563
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Growth delay, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:614230
Opitz Gbbb Syndrome
Telecanthus, Thyroglossal cyst, Patent foramen ovale, Short stature, Ptosis, Downslanted palpebra... ORPHA:2745
Pfeiffer Syndrome
Short stature, Ptosis ORPHA:710
Erdheim-Chester Disease
Xanthelasma, Abnormal aortic valve morphology, Diabetes insipidus, Abnormal pericardium morpholog... ORPHA:35687
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality of the hypotha... ORPHA:264200
Kabuki Syndrome 1
Postnatal growth retardation, Bilateral ptosis, Highly arched eyebrow, Ventricular septal defect,... OMIM:147920
X-Linked Creatine Transporter Deficiency
Short stature, Ptosis ORPHA:52503
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Telecanthus, Intrauterine growth retardation, Supravalvar pulmonary stenosis, Aortic valve stenos... OMIM:618164
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Ptosis, Cardiomyopathy OMIM:105210
Lateral Meningocele Syndrome
Ptosis, Downslanted palpebral fissures, Ventricular septal defect, Epicanthus ORPHA:2789
Moebius Syndrome
Death in infancy, Blepharitis, Ptosis, Epicanthus, Hypogonadotropic hypogonadism ORPHA:570
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Distichiasis, Ptosis, Conjunctivitis, Lacrimal punctal atresia ORPHA:91416
Isolated Permanent Neonatal Diabetes Mellitus
Bilateral ptosis, Reduced pancreatic beta cells, Abnormal heart morphology, Intrauterine growth r... ORPHA:99885
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypothyroidism, Ptosis, Type I diabetes mellitus, Thyroiditis ORPHA:228426
Refsum Disease
Ptosis, Cardiomyopathy ORPHA:773
Fanconi Anemia
Short palpebral fissure, Abnormal aortic valve morphology, Abnormal eyelid morphology, Hypertroph... ORPHA:84
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Short palpebral fissure, Decreased response to growth hormone stimu... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Short palpebral fissure, Decreased response to growth hormone stimu... ORPHA:363958
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Long eyelashes, Pulmonic stenosis, Ptosis, Downslanted palpebral fis... OMIM:607721
Lymphedema-Distichiasis Syndrome
Ectropion, Distichiasis, Ptosis, Tetralogy of Fallot, Conjunctivitis, Ventricular septal defect OMIM:153400
Glycogen Storage Disease Xii
Delayed puberty, Ptosis, Epicanthus, Short stature OMIM:611881
Coffin-Siris Syndrome 4
Long eyelashes, Pulmonic stenosis, Ptosis, Short stature, Thick eyebrow, Mitral atresia, Intraute... OMIM:614609
Dystonia 34, Myoclonic
Ptosis OMIM:619724
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ptosis OMIM:615911
Van Maldergem Syndrome 2
Short palpebral fissure, Growth delay, Ptosis, Epicanthus, Narrow palpebral fissure, Blepharophim... OMIM:615546
Van Maldergem Syndrome 1
Short palpebral fissure, Growth delay, Ptosis, Epicanthus, Blepharophimosis OMIM:601390
Marden-Walker Syndrome
Situs inversus totalis, Abnormal anatomic location of the heart, Short palpebral fissure, Dextroc... ORPHA:2461
Teebi-Shaltout Syndrome
Telecanthus, Highly arched eyebrow, Aortic valve stenosis, Ptosis, Short stature, Ventricular sep... OMIM:272950
Chromosome 18P Deletion Syndrome
Short stature, Ptosis, Epicanthus OMIM:146390
Chilton-Okur-Chung Neurodevelopmental Syndrome
Bilateral ptosis, Hooded eyelid, Highly arched eyebrow, Anterior pituitary hypoplasia, Patent for... OMIM:619841
Xia-Gibbs Syndrome
Ptosis, Downslanted palpebral fissures, Upslanted palpebral fissure OMIM:615829
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ptosis, Downslanted palpebral fissures, Mitral valve prolapse, Epicanthus OMIM:104350
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ptosis, Death in childhood, Hypertrophic cardiomyopathy OMIM:220110
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, Ptosis OMIM:251900
Phosphoribosylpyrophosphate Synthetase Superactivity
Death in childhood, Short stature, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:300661
Noonan Syndrome
Postnatal growth retardation, Delayed menarche, Hypertrophic cardiomyopathy, Short stature, Ptosi... ORPHA:648
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Highly arched eyebrow, Patent foramen oval... ORPHA:444077
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Ptosis OMIM:615453
Kabuki Syndrome
Highly arched eyebrow, Long eyelashes, Sparse lateral eyebrow, Ptosis, Precocious puberty, Short ... ORPHA:2322
Combined Oxidative Phosphorylation Deficiency 24
Ptosis OMIM:616239
Scarf Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:3134
Basel-Vanagaite-Smirin-Yosef Syndrome
Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Atrial septal defect, Ventric... ORPHA:464738
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Ptosis OMIM:616323
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short stature, Ptosis, Epicanthus OMIM:616723
Combined Oxidative Phosphorylation Deficiency 7
Ptosis OMIM:613559
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Epicanthu... ORPHA:369950
Congenital Myopathy 13
Short palpebral fissure, Telecanthus, Short stature, Ptosis, Downslanted palpebral fissures, Blep... OMIM:255995
Kosaki Overgrowth Syndrome
Xanthelasma, Downslanted palpebral fissures, Ptosis OMIM:616592
Pearson Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Steatorrhea,... ORPHA:699
Coach Syndrome 1
Growth delay, Ptosis OMIM:216360
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ptosis, Downslanted palpebral fissures, Severe short stature ORPHA:2215
22Q11.2 Deletion Syndrome
Tricuspid atresia, Hypoparathyroidism, Abnormal aortic valve morphology, Telecanthus, Abnormal ey... ORPHA:567
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Ptosis ORPHA:2824
Cree Mental Retardation Syndrome
Ptosis, Downslanted palpebral fissures OMIM:606851
Brown-Vialetto-Van Laere Syndrome 1
Ptosis, Death in childhood OMIM:211530
Kbg Syndrome
Telecanthus, Synophrys, Long palpebral fissure, Ptosis, Downslanted palpebral fissures, Short sta... OMIM:148050
Oculocerebrocutaneous Syndrome
Ptosis, Eyelid coloboma ORPHA:1647
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Shallow orbits, Long palpebral fissure, Ptosis, Hypothyroidism, Abnormal heart morphology, Growth... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Shallow orbits, Long palpebral fissure, Ptosis, Hypothyroidism, Abnormal heart morphology, Growth... ORPHA:352665
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ptosis, Atrial septal defect, Ventricular septal defect OMIM:309520
Phace Syndrome
Abnormality of the orbital region, Hypothyroidism, Ptosis, Abnormal heart morphology, Tetralogy o... ORPHA:42775
Microphthalmia/Coloboma 9
Ptosis, Narrow palpebral fissure OMIM:615145
8Q21.11 Microdeletion Syndrome
Ptosis, Downslanted palpebral fissures, Blepharophimosis, Epicanthus ORPHA:284160
Rapp-Hodgkin Syndrome
Sparse eyelashes, Ptosis, Absent lacrimal punctum, Sparse eyebrow, Short stature OMIM:129400
Muenke Syndrome
Ptosis ORPHA:53271
Proboscis Lateralis
Orbital cyst, Abnormal nasolacrimal system morphology, Abnormality of the ocular adnexa, Abnormal... ORPHA:141099
Acrofrontofacionasal Dysostosis 1
S-shaped palpebral fissures, Long eyebrows, Long eyelashes, Short stature, Ptosis OMIM:201180
Neurofaciodigitorenal Syndrome
Short stature, Ptosis, Downslanted palpebral fissures, Epicanthus, Intrauterine growth retardation ORPHA:2673
Aniridia-Absent Patella Syndrome
Ptosis ORPHA:1069
Waardenburg Syndrome
Ptosis, Abnormal eyebrow morphology, Telecanthus, Synophrys ORPHA:3440
Angelman Syndrome
Ptosis, Delayed menarche, Precocious puberty in females ORPHA:72
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Ptosis, Hyperthyroidism, Left ventricular hypertrophy, Goiter, Dilated cardiomyop... ORPHA:254892
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Secundum atrial septal defect, Short s... OMIM:601321
Treacher Collins Syndrome 1
Upper eyelid coloboma, Ptosis, Downslanted palpebral fissures, Lower eyelid coloboma, Abnormal he... OMIM:154500
Arthrogryposis, Distal, Type 12
Ptosis, Mitral valve prolapse OMIM:620545
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Growth delay, Ptosis, Dilated cardiomyopathy, Cardiomyopathy OMIM:615895
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Telecanthus, Ptosis, Eyelid coloboma, Absent inner eyelashes, Blepha... OMIM:229400
Orofaciodigital Syndrome Xvi
Ptosis, Short palpebral fissure OMIM:617563
Hunter-Macdonald Syndrome
Short palpebral fissure, Short stature, Ptosis, Mitral valve prolapse, Bicuspid aortic valve, Ups... OMIM:611962
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Synophrys, Ptosis, Abnormal heart morphology, Epicanthus inversus, Epicanthus OMIM:617062
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis OMIM:277320
Cdags Syndrome
Sparse eyelashes, Ectropion, Sparse eyebrow, Ptosis OMIM:603116
17Q24.2 Microdeletion Syndrome
Synophrys, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Pineal cyst ORPHA:529962
Rubinstein-Taybi Syndrome 1
Postnatal growth retardation, Perimembranous ventricular septal defect, Broad eyebrow, Highly arc... OMIM:180849
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Prolidase Deficiency
Ptosis OMIM:170100
Spinocerebellar Ataxia Type 36
Ptosis ORPHA:276198
Congenital Fibrosis Of Extraocular Muscles
Ptosis, Hypogonadotropic hypogonadism, Congenital fibrosis of extraocular muscles, Levator palpeb... ORPHA:45358
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ptosis ORPHA:13
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Ptosis, Abnormality of the hypothalamus-pituitary axis ORPHA:1454
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Highly arched eyebrow, Synophrys, Short stature, Ptosis, Downslanted palpebral fissures OMIM:616728
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ptosis ORPHA:257
Ohdo Syndrome, X-Linked
Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Blepharophimosis OMIM:300895
Brain Dopamine-Serotonin Vesicular Transport Disease
Ptosis ORPHA:352649
Toxin-Mediated Infectious Botulism
Ptosis ORPHA:230800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis OMIM:613077
Microphthalmia, Syndromic 2
Dextrocardia, Hypothyroidism, Ptosis, Pulmonic stenosis, Aortic valve stenosis, Thick eyebrow, Sh... OMIM:300166
Spinocerebellar Ataxia 36
Ptosis OMIM:614153
Leigh Syndrome
Hypertrophic cardiomyopathy, Growth delay, Ptosis, Intrauterine growth retardation, Ventricular s... ORPHA:506
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Ptosis, Blepharophimosis, Telecanthus, Long eyelashes OMIM:604314
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, Shallow orbits, Ptosis, Downslanted palpebral fissures, Mitral valve prolapse OMIM:182212
Arthrogryposis Multiplex Congenita 5
Death in infancy, Growth delay, Ptosis, Intrauterine growth retardation, Upslanted palpebral fissure OMIM:618947
Machado-Joseph Disease
Ptosis OMIM:109150
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ptosis, Dilated cardiomyopathy ORPHA:70595
Synaptic Congenital Myasthenic Syndromes
Bilateral ptosis, Ptosis, Right ventricular hypertrophy ORPHA:98915
Cerebrooculonasal Syndrome
Postnatal growth retardation, Sparse eyelashes, Ptosis, Sparse eyebrow, Epicanthus OMIM:605627
Gabriele-De Vries Syndrome
Decreased response to growth hormone stimulation test, Telecanthus, Patent foramen ovale, Ebstein... ORPHA:506358
Typical Nemaline Myopathy
Ptosis ORPHA:171436
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ptosis, Testicular atrophy, Hypergonadotropic hypogonadism OMIM:157640
Cornelia De Lange Syndrome 1
Curly eyelashes, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis, Short stature, Intraut... OMIM:122470
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Aorti... ORPHA:536471
Myasthenic Syndrome, Congenital, 20, Presynaptic
Ptosis OMIM:617143
Abetalipoproteinemia
Steatorrhea, Hypothyroidism, Ptosis, Cardiomegaly, Hypocholesterolemia, Keratoconjunctivitis sicca ORPHA:14
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Synophrys, Ptosis, Tetralogy of Fallot, Epicanthus inversus, Epicanthus, Na... OMIM:613458
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Narrow palpebral fissure, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:613603
Shprintzen-Goldberg Syndrome
Abnormal aortic valve morphology, Telecanthus, Ptosis, Downslanted palpebral fissures, Mitral val... ORPHA:2462
Cerebral Creatine Deficiency Syndrome 1
Short stature, Ptosis OMIM:300352
Charge Syndrome
Delayed puberty, Postnatal growth retardation, Abnormality of the adrenal glands, Abnormal aortic... ORPHA:138
Malignant Atrophic Papulosis
Abnormal pericardium morphology, Ptosis, Abnormal myocardium morphology ORPHA:679
Codas Syndrome
Atrioventricular canal defect, Short stature, Ptosis, Atrial septal defect, Ventricular septal de... OMIM:600373
Saethre-Chotzen Syndrome
Short stature, Ptosis, Blepharospasm, Epicanthus ORPHA:794
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Ptosis, Upslanted palpebral fissure, Telecanthus OMIM:620224
Skin Creases, Congenital Symmetric Circumferential, 2
Short palpebral fissure, Synophrys, Short stature, Ptosis, Downslanted palpebral fissures, Epican... OMIM:616734
Acro-Renal-Ocular Syndrome
Postnatal growth retardation, Short palpebral fissure, Ptosis, Tetralogy of Fallot, Epicanthus ORPHA:959
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Ptosis ORPHA:521411
Combined Oxidative Phosphorylation Defect Type 7
Ptosis ORPHA:254930
Arboleda-Tham Syndrome
Atrial septal defect, Highly arched eyebrow, Pulmonic stenosis, Ptosis, Conjunctivitis, Secundum ... OMIM:616268
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Short stature, Ptosis OMIM:609037
Lathosterolosis
Intrauterine growth retardation, Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:46059
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ptosis, Hypertrophic cardiomyopathy ORPHA:436271
Alexander Disease
Hypothyroidism, Ptosis, Diabetes mellitus, Precocious puberty ORPHA:58
African Trypanosomiasis
Abnormality of renin-angiotensin system, Myocarditis, Abnormality of the endocrine system, Miscar... ORPHA:3385
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormal eyelash morphology, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology,... ORPHA:2526
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Growth del... OMIM:252010
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Ptosis, Steatorrhea ORPHA:3217
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short stature, Ptosis, Sparse eyebrow, Synophrys OMIM:309583
Gjc2-Related Late-Onset Primary Lymphedema
Ptosis ORPHA:568051
Iatrogenic Botulism
Ptosis ORPHA:254509
Wound Botulism
Ptosis ORPHA:178475
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hypothyroidism, Ptosis, Short stature, Eyelid coloboma, Cardiomegaly... ORPHA:51
Noonan Syndrome 1
Postnatal growth retardation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted... OMIM:163950
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol... ORPHA:79318
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Synophrys, Precocious puberty, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:301066
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Rhizomelia, Abnormal eyelash morphology, Short stature, Ptosis, Do... ORPHA:818
Glycine Encephalopathy With Normal Serum Glycine
Ptosis, Long eyelashes OMIM:617301
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Telecanthus, Highly arched eyebrow, Sparse lateral eyebrow, ... OMIM:280000
Scarf Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:312830
Infant Botulism
Ptosis, Keratoconjunctivitis sicca ORPHA:178478
Inhalational Botulism
Ptosis ORPHA:254504
Autosomal Dominant Robinow Syndrome
Curly eyelashes, Euryblepharon, Long eyelashes, Long palpebral fissure, Ptosis, Downslanted palpe... ORPHA:3107
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Ptosis, Downslanted palpebral fissures, Mitral valve prolapse OMIM:614816
Schwartz-Jampel Syndrome
Blepharospasm, Distichiasis, Death in infancy, Short stature, Ptosis, Abnormal eyebrow morphology... ORPHA:800
Acrofacial Dysostosis, Cincinnati Type
Biventricular hypertrophy, Cleft anterior mitral valve leaflet, Upper eyelid coloboma, Pterygium,... OMIM:616462
Neuroocular Syndrome
Highly arched eyebrow, Patent foramen ovale, Distichiasis, Long eyelashes, Synophrys, Ptosis, Dow... OMIM:619539
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Abnormal heart valve morphology, Ptosis, Downslanted palpebral fissures, E... ORPHA:280
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Ptosis, Downslanted palpebral fissures ORPHA:1555
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Ptosis, Adrenal insufficiency OMIM:615510
Pachydermoperiostosis
Ptosis, Elevated circulating growth hormone concentration ORPHA:2796
Autosomal Recessive Ataxia, Beauce Type
Ptosis ORPHA:88644
Galloway-Mowat Syndrome 1
Intrauterine growth retardation, Ptosis, Epicanthus, Short stature OMIM:251300
Chime Syndrome
Pulmonary valve atresia, Transposition of the great arteries, Ptosis, Tetralogy of Fallot, Epican... ORPHA:3474
Autosomal Recessive Spastic Paraplegia Type 77
Ptosis ORPHA:466722
Ayme-Gripp Syndrome
Broad eyebrow, Short stature, Ptosis, Downslanted palpebral fissures, Pericarditis, Upslanted pal... OMIM:601088
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Telecanthus, Patent foramen ovale, Short stature, Ptosis, Epi... OMIM:157800
Cornelia De Lange Syndrome
Delayed puberty, Curly eyelashes, Highly arched eyebrow, Severe postnatal growth retardation, Syn... ORPHA:199
Wagro Syndrome
Ptosis, Downslanted palpebral fissures OMIM:612469
Foodborne Botulism
Ptosis ORPHA:228371
Basal Ganglia Disease, Biotin-Thiamine Responsive
Ptosis OMIM:607483
Joubert Syndrome 1
Highly arched eyebrow, Ptosis, Epicanthus OMIM:213300
Tukel Syndrome
Ptosis, Congenital fibrosis of extraocular muscles OMIM:609428
Arachnoid Cyst
Ptosis, Abnormality of the endocrine system ORPHA:2356
Nail-Patella Syndrome
Short stature, Ptosis, Antecubital pterygium OMIM:161200
Au-Kline Syndrome
Shallow orbits, Sparse lateral eyebrow, Ptosis, Downslanted palpebral fissures, Long palpebral fi... OMIM:616580
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Peritonitis ORPHA:2968
Intellectual Developmental Disorder, Autosomal Dominant 29
Ptosis, Downslanted palpebral fissures, Short palpebral fissure, Synophrys OMIM:616078
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyelashes, Ptosis, Sparse eyebrow, Tetralogy of Fallot, Eyelid coloboma, Epicanthus ORPHA:306542
Robinow Syndrome, Autosomal Recessive 1
Long eyelashes, Long palpebral fissure, Ptosis, Downslanted palpebral fissures, Abnormal heart mo... OMIM:268310
Combined Oxidative Phosphorylation Deficiency 58
Ptosis, Epicanthus OMIM:620451
Myasthenic Syndrome, Congenital, 19
Ptosis OMIM:616720
Multiple Synostoses Syndrome 1
Ptosis, Upslanted palpebral fissure OMIM:186500
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Death in infancy, Precocious puberty, Ptosis, Hypocholesterolemia, S... OMIM:270400
Okamoto Syndrome
Abnormal left ventricle morphology, Severe postnatal growth retardation, Primum atrial septal def... ORPHA:2729
Zygomycosis
Myocarditis, Ptosis, Chemosis, Pericarditis, Diabetes mellitus, Endocarditis ORPHA:73263
Fetal Akinesia Deformation Sequence 1
Stillbirth, Short palpebral fissure, Telecanthus, Ptosis, Intrauterine growth retardation, Blepha... OMIM:208150
Congenital Myopathy 17
Ptosis, Downslanted palpebral fissures, Telecanthus OMIM:618975
Joubert Syndrome 8
Ptosis OMIM:612291
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Ptosis, Hooded upper eyelid, Telecanthus OMIM:618548
Aromatic L-Amino Acid Decarboxylase Deficiency
Ptosis, Blepharospasm OMIM:608643
Congenital Myasthenic Syndrome
Ptosis ORPHA:590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ptosis OMIM:610131
Presynaptic Congenital Myasthenic Syndromes
Ptosis ORPHA:98914
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Death in infancy, Short stature, Ptosis, Tetralogy of Fallot, Atri... OMIM:274000
Genitourinary And/Or Brain Malformation Syndrome
Short palpebral fissure, Ptosis, Epicanthus inversus, Epicanthus, Streak ovary, Upslanted palpebr... OMIM:618820
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Highly arched eyebrow, Ptosis, Intrauterine growth retardation, Short stature ORPHA:2282
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Growth delay, Ptosis, Patent foramen ovale, Hypertrophic cardiomyopathy ORPHA:17
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Severe postnatal growth retardation, Precocious puberty, Ptosis, Short sta... OMIM:194190
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ptosis, Dilated cardiomyopathy, Mitral valve prolapse OMIM:607459
Oculopharyngodistal Myopathy 1
Bilateral ptosis, Dilated cardiomyopathy, Ptosis, Hypertrophic cardiomyopathy OMIM:164310
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Patent foramen ovale, Ptosis, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic left heart OMIM:618748
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Ptosis, Hypoparathyroidism OMIM:146255
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Tetralogy of Fallot... ORPHA:1519
Visual Impairment And Progressive Phthisis Bulbi
Ptosis OMIM:618283
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Total anomalous pulmonary venous return, Ptosis, Antecubital pterygium, Epic... OMIM:609945
Diamond-Blackfan Anemia
Short stature, Ptosis, Growth delay, Abnormal heart morphology, Epicanthus, Atrial septal defect,... ORPHA:124
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Short palpebral fissure, Short stature, Ptosis, Downslanted palpebral fissures, Epicanthus invers... OMIM:309590
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Ptosis, Diabetes mellitus, Hypogonadism OMIM:614231
Beare-Stevenson Cutis Gyrata Syndrome
Ptosis, Downslanted palpebral fissures OMIM:123790
Charge Syndrome
Delayed puberty, Postnatal growth retardation, Decreased response to growth hormone stimulation t... OMIM:214800
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Ptosis, Downslanted palpebral fissures, Eyelid coloboma ORPHA:2211
Pontine Tegmental Cap Dysplasia
Ptosis OMIM:614688
Lathosterolosis
Ptosis, Epicanthus OMIM:607330
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Postnatal growth retardation, Trichiasis, Highly arched eyebrow, Patent foramen ovale, Pulmonic s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Postnatal growth retardation, Trichiasis, Highly arched eyebrow, Patent foramen ovale, Pulmonic s... ORPHA:353277
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short palpebral fissure, Pseudohypoparathyroidism, Ptosis, Short stature, Epicanthus, Intrauterin... OMIM:617157
Duane Retraction Syndrome
Ptosis, Blepharospasm, Blepharophimosis, Short palpebral fissure ORPHA:233
Auriculocondylar Syndrome
Ptosis ORPHA:137888
Costello Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Short sta... OMIM:218040
Holoprosencephaly 4
Ptosis OMIM:142946
Faciocardiomelic Syndrome
Ptosis, Short eyelashes, Common atrium, Telecanthus OMIM:612731
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Ptosis, Epicanthus OMIM:619934
Pallister-Hall Syndrome
Atrioventricular canal defect, Pituitary hypothyroidism, Adrenal hypoplasia, Panhypopituitarism, ... ORPHA:672
Degcags Syndrome
Dysplastic pulmonary valve, Abnormal eyelash morphology, Patent foramen ovale, Synophrys, Long ey... OMIM:619488
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Bacterial endocarditis, Mitral valve calcification, Growth delay, Ptosis, Aortic... ORPHA:2072
Kawasaki Disease
Myocarditis, Abnormal heart valve morphology, Double outlet right ventricle with subpulmonary ven... ORPHA:2331
Meckel Syndrome, Type 1
Adrenal hypoplasia, Ptosis, Epicanthus inversus, Intrauterine growth retardation, Abnormal cardia... OMIM:249000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ptosis, Death in early adulthood OMIM:603041
Combined Oxidative Phosphorylation Deficiency 12
Ptosis OMIM:614924
Menke-Hennekam Syndrome 1
Short palpebral fissure, Telecanthus, Long eyelashes, Ptosis, Downslanted palpebral fissures, Thi... OMIM:618332
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ptosis, Neonatal death, Hypertrophic cardiomyopathy OMIM:124000
Monosomy 13Q14
Intrauterine growth retardation, Ptosis, Epicanthus, Short stature ORPHA:1587
Mesomelia-Synostoses Syndrome
Ptosis, Downslanted palpebral fissures, Mesomelic short stature, Telecanthus OMIM:600383
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Ptosis OMIM:259100
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary agenesis, Anterior pitu... OMIM:610829
Coffin-Siris Syndrome 1
Postnatal growth retardation, Long eyelashes, Short stature, Ptosis, Downslanted palpebral fissur... OMIM:135900
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis OMIM:167100
Charcot-Marie-Tooth Disease Type 4B2
Ptosis ORPHA:99956
Miller Fisher Syndrome
Ptosis ORPHA:98919
Acromelic Frontonasal Dysostosis
Hypopituitarism, Ptosis, Downslanted palpebral fissures, Telecanthus OMIM:603671
Lacrimoauriculodentodigital Syndrome
Abnormal lacrimal duct morphology, Hypoplasia of the lacrimal punctum, Lacrimal gland aplasia, Ab... ORPHA:2363
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in childhood, Absent eyelashes, Death in infancy, Absent eyebrow, Ptosis, Short stature, Ne... OMIM:308205
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Ptosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:365
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:225400
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Ptosis, Postnatal growth retardation, Dilatation of the ventricu... ORPHA:90348
Monosomy 22Q13.3
Palpebral edema, Long eyelashes, Ptosis, Thick eyebrow, Epicanthus ORPHA:48652
Viss Syndrome
Ectropion, Atrial septal defect, Patent foramen ovale, Coronary sinus enlargement, Long palpebral... OMIM:619472
Aniridia 1
Bilateral ptosis, Ptosis OMIM:106210
Saethre-Chotzen Syndrome
Abnormal nasolacrimal system morphology, Shallow orbits, Short stature, Ptosis, Abnormal heart mo... OMIM:101400
Peters-Plus Syndrome
Postnatal growth retardation, Atrial septal defect, Rhizomelia, Disproportionate short-limb short... OMIM:261540
Multiple System Atrophy 1, Susceptibility To
Ptosis OMIM:146500
Arima Syndrome
Growth delay, Ptosis OMIM:243910
Mowat-Wilson Syndrome
Broad eyebrow, Pulmonic stenosis, Ptosis, Downslanted palpebral fissures, Abnormal heart morpholo... OMIM:235730
Congenital Disorder Of Deglycosylation 1
Ptosis OMIM:615273
Branchiooculofacial Syndrome
Postnatal growth retardation, Telecanthus, Ptosis, Ectopic thymus tissue, Intrauterine growth ret... OMIM:113620
Primrose Syndrome
Delayed puberty, Synophrys, Hypothyroidism, Ptosis, Downslanted palpebral fissures, Hypergonadotr... OMIM:259050
Trichorhinophalangeal Syndrome, Type Ii
Growth delay, Ptosis, Thick eyebrow, Right ventricular hypertrophy, Partial anomalous pulmonary v... OMIM:150230
Loeys-Dietz Syndrome 1
Bicuspid pulmonary valve, Ptosis, Downslanted palpebral fissures, Mitral valve prolapse, Bicuspid... OMIM:609192
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Short stature, Ptosis, Hypogonadism, Epicanthus, Upslanted palpebral fissure OMIM:309580
Cohen-Gibson Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:617561
Myasthenic Syndrome, Congenital, 21, Presynaptic
Ptosis OMIM:617239
Pallister-Killian Syndrome
Stillbirth, Rhizomelia, Telecanthus, Mesomelic/rhizomelic limb shortening, Hypertrophic cardiomyo... OMIM:601803
Bickerstaff Brainstem Encephalitis
Ptosis ORPHA:79138
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Ptosis, Short stature, Aortic valve calcificat... OMIM:182250
Joubert Syndrome 21
Ptosis OMIM:615636
Joubert Syndrome 5
Ptosis OMIM:610188
Proteus Syndrome
Retinal hamartoma, Diabetes insipidus, Neoplasm of the thymus, Ptosis, Downslanted palpebral fiss... ORPHA:744
Vascular Ehlers-Danlos Syndrome
Telecanthus, Abnormal heart valve morphology, Abnormal eyelash morphology, Hypoplastic lacrimal d... ORPHA:286
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad eyebrow, Telecanthus, Highly arched eyebrow, Pulmonic stenosis, Ptosis, Aortic valve stenos... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad eyebrow, Telecanthus, Pulmonic stenosis, Ptosis, Aortic valve stenosis, Abnormal heart morp... ORPHA:261537
Hypermobile Ehlers-Danlos Syndrome
Ptosis, Mitral valve prolapse, Epicanthus, Keratoconjunctivitis sicca ORPHA:285
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Ptosis OMIM:161700
Craniofacial Microsomia 1
Upper eyelid coloboma, Ptosis, Tetralogy of Fallot, Limbal dermoid, Ventricular septal defect, Bl... OMIM:164210
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Ptosis, Growth delay OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dbh

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dbh.

No publications found that use IMPC mice or data for Dbh.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dbhtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dbhtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dbhtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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