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Gene: Sim1 MGI:98306

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

single-minded family bHLH transcription factor 1

Synonyms:

bHLHe14

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 Sim1 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.

Human diseases associated with Sim1 (3 diseases)
Human diseases predicted to be associated with Sim1 (927 diseases)

The table below shows human diseases associated to Sim1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert...	ORPHA:398079

The table below shows human diseases predicted to be associated to Sim1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula...	ORPHA:69076
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus	OMIM:125853
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Decreased serum insulin-like growth factor 1, Insulin resistance, Truncal obesity, Delayed puberty	ORPHA:140941
Mody	Abnormality of the kidney, Elevated hemoglobin A1c, Large for gestational age, Overweight, Transi...	ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth...	OMIM:618157
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child...	ORPHA:71529
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Pituitary Adenoma 5, Multiple Types	Pituitary adenoma	OMIM:617540
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity, Tall stature	OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Obesity And Hypopigmentation	Overgrowth, Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Essential Fructosuria	Abnormal urine carbohydrate level, Hyperglycemia, Abnormal erythrocyte enzyme level	ORPHA:2056
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c	OMIM:619278
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	OMIM:173100
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Pituitary Hormone Deficiency, Combined, 3	Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati...	OMIM:221750
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure ...	ORPHA:2089
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Obesity, Decreased serum leptin	OMIM:614962
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia	OMIM:617885
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism	OMIM:307500
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ...	OMIM:606528
Transient Neonatal Diabetes Mellitus	Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ...	ORPHA:99886
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation,...	ORPHA:276580
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia	OMIM:618160
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi...	ORPHA:35878
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Type I diabetes me...	ORPHA:276575
Cataract 47	Glycosuria	OMIM:612018
Septooptic Dysplasia	Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:182230
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Elevated hemoglobin A1c, Anterior pituitary hypoplas...	OMIM:616113
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Hypouricemia, Large for gestatio...	OMIM:616026
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	ORPHA:67045
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Glucose/Galactose Malabsorption	Failure to thrive, Abnormal oral glucose tolerance, Glycosuria	OMIM:606824
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul...	ORPHA:263455
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia, Hypoalbuminemia...	ORPHA:2298
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ...	ORPHA:276608
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300067
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit...	OMIM:615849
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Seckel Syndrome 10	Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Hypertriglyceridemia, Ele...	OMIM:617253
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia	OMIM:618856
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Multiple Symmetric Lipomatosis	Insulin resistance	ORPHA:2398
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal...	ORPHA:79644
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Fanconi-Bickel Syndrome	Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hypercalc...	ORPHA:2088
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
14Q11.2 Microduplication Syndrome	Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism	ORPHA:261229
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Obesity, Hypogonadotropic hypogonadism	ORPHA:177910
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Type I diabetes mellitus, Elevated hemoglobin A1c	OMIM:616192
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Insulin resistance, Lymphocytosis, Microscopic hematuria	ORPHA:79087
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Obesity, Renal cyst	OMIM:615987
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat...	ORPHA:453533
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia	ORPHA:79084
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ...	ORPHA:97362
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Panhypopituitarism, X-Linked	Panhypopituitarism	OMIM:312000
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death, Polymicrogyria, Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal t...	OMIM:619602
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ...	ORPHA:3337
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Small pituitary gland	OMIM:614880
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612702
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Nephrocalcinosis, Ren...	OMIM:613404
Pituitary Stalk Interruption Syndrome	Death in infancy, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroidism...	ORPHA:95496
Narcolepsy Type 1	Obesity	ORPHA:2073
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,...	ORPHA:300373
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl...	OMIM:615980
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter, Obesity	ORPHA:411515
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Pituitary hypothyroidism, Anterior pituitary hypoplasia	OMIM:619983
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Renal tubular dysfunction, Glucose intolerance, Glycosuria, Failure to t...	OMIM:616539
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test	OMIM:300123
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Bardet-Biedl Syndrome 5	Hypogonadism, Obesity	OMIM:615983
Dystonia 30	Hypothalamic hamartoma	OMIM:619291
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Obesity, Aggressive behavior	OMIM:620270
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Obesity	ORPHA:85274
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612079
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
Chudley-Mccullough Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Pol...	OMIM:604213
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Werner Syndrome	Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia	OMIM:277700
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity	OMIM:309585
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia	OMIM:608600
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Galactokinase Deficiency	Hypoglycemia, Hypergonadotropic hypogonadism, Small for gestational age, Hyperinsulinemia, Hepato...	ORPHA:79237
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia	OMIM:613877
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki...	OMIM:615547
Lipodystrophy, Congenital Generalized, Type 3	Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy...	OMIM:612526
Chromosome Xq26.3 Duplication Syndrome	Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir...	OMIM:300942
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
Multiple Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Summitt Syndrome	Obesity	OMIM:272350
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab...	ORPHA:79085
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Isolated Exencephaly	Anterior pituitary hypoplasia, Posterior pituitary agenesis, Maternal diabetes	ORPHA:563612
11P15.4 Microduplication Syndrome	Obesity, Aggressive behavior	ORPHA:300305
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged kidney, Elevated circulating gr...	ORPHA:90301
Septo-Optic Dysplasia Spectrum	Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Abnormality of the hypothalamus...	ORPHA:3157
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Splenomegaly, Hyperinsulin...	OMIM:269700
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero...	OMIM:232700
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogon...	OMIM:615993
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Obesity	OMIM:300209
Mehmo Syndrome	Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A...	OMIM:300148
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Huntington Disease	Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co...	ORPHA:399
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Pituicytoma	Decreased serum testosterone concentration, Pituicytoma, Decreased response to growth hormone sti...	ORPHA:251623
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Mehmo Syndrome	Diabetes mellitus, Agitation, Obesity	ORPHA:85282
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up...	ORPHA:99885
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hernia of the abdominal wall, Obesity	ORPHA:3055
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia, Renal steatosis	OMIM:261650
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Dia...	OMIM:137920
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Insuli...	ORPHA:363400
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ...	ORPHA:411629
Acromelic Frontonasal Dysplasia	Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia	ORPHA:1827
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to...	OMIM:606407
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Congenital hypothyroidism	ORPHA:88643
Xq27.3Q28 Duplication Syndrome	Truncal obesity, Failure to thrive, Hypogonadism	ORPHA:261483
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Morm Syndrome	Truncal obesity, Hyperactivity, Aggressive behavior	ORPHA:75858
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to thrive	OMIM:615453
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin...	ORPHA:681
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ...	OMIM:229600
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development, Micro...	OMIM:610628
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Central Precocious Puberty In Male	Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response...	ORPHA:649929
Myasthenia Gravis	Hemolytic anemia, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency, Abnormal...	ORPHA:589
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Proteinuria, Pancytopeni...	ORPHA:447
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Perlman Syndrome	Femoral hernia, Hyperinsulinemia, Inguinal hernia, Tall stature	ORPHA:2849
Bloom Syndrome	Elevated hemoglobin A1c, Leukemia, Small for gestational age, Type II diabetes mellitus	OMIM:210900
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Donohue Syndrome	Precocious puberty, Long penis, Hyperinsulinemia, Severe failure to thrive, Pancreatic islet-cell...	OMIM:246200
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,...	OMIM:619476
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert...	ORPHA:398079
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Microphthalmia, Syndromic 11	Agenesis of pineal gland	OMIM:614402
Luscan-Lumish Syndrome	Overgrowth, Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant...	ORPHA:91351
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity	OMIM:604931
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Orthostatic Hypotension 2	Anemia, Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi...	OMIM:608594
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Congenital Generalized Lipodystrophy	Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res...	ORPHA:528
Bardet-Biedl Syndrome 6	Diabetes mellitus, Hypospadias, Obesity, Renal cyst	OMIM:605231
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:151660
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased serum leptin,...	ORPHA:435660
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu...	ORPHA:73272
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Sec...	ORPHA:91350
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Abnormality of the thyroid gland, Obesity, Hypogonadism, ...	ORPHA:2234
Bardet-Biedl Syndrome 4	Hypogonadism, Obesity	OMIM:615982
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume	OMIM:613668
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Obesity, Type II diabetes mellitus, Displacement of the...	ORPHA:2377
Band Heterotopia	Gray matter heterotopia, Subcortical band heterotopia, Agenesis of corpus callosum, Polymicrogyria	OMIM:600348
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Hyperphosphaturia, Decreased circulating ceruloplasmin conc...	OMIM:277900
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity	OMIM:615985
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Increased body weight, ...	ORPHA:398069
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
Deeah Syndrome	Death in infancy, Decreased response to growth hormone stimulation test, Anterior pituitary hypop...	OMIM:619004
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ...	OMIM:614736
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,...	ORPHA:391673
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Elevated cir...	ORPHA:230
Pediatric-Onset Graves Disease	Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu...	ORPHA:525731
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration	OMIM:618709
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis...	OMIM:613457
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia	OMIM:612469
Microphthalmia, Syndromic 3	Cryptorchidism, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypothalamic hamartoma	OMIM:206900
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad...	OMIM:300869
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors	ORPHA:444002
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Hydrocephalus-Obesity-Hypogonadism Syndrome	Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity	ORPHA:2183
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious...	OMIM:616222
Nephronophthisis 15	Obesity	OMIM:614845
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia, Hypospadias	OMIM:175700
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Polyphagia, Obesity, Delayed puberty	ORPHA:251004
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel...	ORPHA:72
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification	OMIM:618824
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp...	ORPHA:699
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Spl...	ORPHA:465508
Immunodeficiency 61	Obesity, Attention deficit hyperactivity disorder	OMIM:300310
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Trisomy 5P	Obesity	ORPHA:1742
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435651
Mpi-Cdg	Hypothyroidism, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity	ORPHA:2233
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism	OMIM:613724
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec...	ORPHA:739
Bangstad Syndrome	Pancytopenia, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal ins...	OMIM:210740
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis...	ORPHA:134
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ...	OMIM:176270
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Glucose intolerance, Focal segmental ...	OMIM:619127
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity	ORPHA:3077
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Abnormal pituitary gland morphology	ORPHA:314621
Borjeson-Forssman-Lehmann Syndrome	Obesity, Delayed puberty	OMIM:301900
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Large for gestational age	ORPHA:2432
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Glucocorticoid Deficiency 2	Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level	OMIM:607398
14Q22Q23 Microdeletion Syndrome	Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypothalamu...	ORPHA:264200
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr...	OMIM:203800
Chung-Jansen Syndrome	Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior	OMIM:617991
Laron Syndrome	Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed ...	ORPHA:633
Intellectual Developmental Disorder, Autosomal Recessive 46	Large for gestational age, Self-injurious behavior, Agitation, Aggressive behavior	OMIM:616116
Microphthalmia, Syndromic 5	Cryptorchidism, Ectopic posterior pituitary	OMIM:610125
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Type II lissencephaly, Dysgyria	ORPHA:352682
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Short Syndrome	Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol...	OMIM:269880
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast...	ORPHA:769
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi...	ORPHA:177907
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin...	OMIM:600430
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism	OMIM:614613
Intellectual Developmental Disorder With Autism And Macrocephaly	Overweight, Recurrent hand flapping, Pica, Tall stature	OMIM:615032
Secondary Short Bowel Syndrome	Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Polyphagia	ORPHA:95427
Summitt Syndrome	Camptodactyly of finger, Obesity, Tall stature	ORPHA:3210
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Lipoma, Obesity, Oral-pharyngeal dysphagia	ORPHA:480907
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c...	OMIM:615830
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification	OMIM:618317
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Insulin resistance, Diabetes mellitus, Hypertriglyceridemia	OMIM:615381
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma	OMIM:619908
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Clark-Baraitser Syndrome	Hyperactivity, Obesity, Aggressive behavior	OMIM:617752
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpu...	ORPHA:300573
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Pseudohypoparathyroidism, Obesity	OMIM:612463
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Insulin resistance, Hyper...	ORPHA:79086
Pparg-Related Familial Partial Lipodystrophy	Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Splenomegaly, Insulin-resistant diabe...	ORPHA:79083
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive	OMIM:602579
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Lissencephaly, Neonatal death, Agenesis of corpus callosum, Agyria	OMIM:616342
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
48,Xxyy Syndrome	Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type...	ORPHA:10
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M...	OMIM:616212
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Silver-Russell Syndrome	Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obes...	ORPHA:813
Tubulinopathy-Associated Dysgyria	Pachygyria, Abnormal thalamus morphology, Agyria, Dysgyria	ORPHA:467166
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Obesity, Glucose intolerance, N...	OMIM:615630
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Obesity	ORPHA:397973
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru...	ORPHA:96184
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hypogonadism, Obesity	OMIM:601794
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Failure to thrive, Small for gestational age	OMIM:214150
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity, Congenital hypothyroidism	ORPHA:352530
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity...	OMIM:612462
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Obesity	ORPHA:363741
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Type II diabetes mellitus, Obesity	ORPHA:3191
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Hyperglycemia, Failure to thrive, Anemia	OMIM:609069
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity	ORPHA:79445
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Familial Multiple Lipomatosis	Insulin resistance, Overgrowth, Hyperlipidemia	ORPHA:199276
Rafiq Syndrome	Truncal obesity, Flexion contracture, Obesity, Aggressive behavior	OMIM:614202
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Dyrk1A-Related Intellectual Disability Syndrome	Cryptorchidism, Anterior pituitary hypoplasia, Breast hypoplasia	ORPHA:464306
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Diabetes mellitus, Unilateral renal agenesis, Ectopic k...	OMIM:616541
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Hashimoto thyr...	ORPHA:91355
Wilson-Turner Syndrome	Truncal obesity, Hypogonadotropic hypogonadism	ORPHA:3459
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level,...	OMIM:219090
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:248370
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Pachygyria	OMIM:614870
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T...	ORPHA:91
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Leukocytosis, Hypercholesterolemia, Hyperglycemia, Hypothyroidism	ORPHA:90065
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Hypochromic microcytic anemia, Postprandial hyperglycemia, Anemia, Abnormal ...	ORPHA:440713
Craniosynostosis 4	Ectopic posterior pituitary	OMIM:600775
Atypical Werner Syndrome	Renal neoplasm, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating ...	ORPHA:79474
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Simplified gyral pattern, Decreased thalamic volume	OMIM:619072
Bardet-Biedl Syndrome 19	Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hydronephrosis	OMIM:615996
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79444
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Lenz-Majewski Hyperostotic Dwarfism	Cryptorchidism, Anterior pituitary hypoplasia	OMIM:151050
Perrault Syndrome 4	Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t...	OMIM:615300
Bardet-Biedl Syndrome 21	Overweight, Obesity	OMIM:617406
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Lipodystrophy, Congenital Generalized, Type 4	Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Dysphagia, Failure to t...	OMIM:613327
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Spastic Paraplegia 11, Autosomal Recessive	Obesity, Dysphagia	OMIM:604360
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance	ORPHA:2348
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Leprechaunism	Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephroc...	ORPHA:508
Pallister-Hall-Like Syndrome	Death in infancy, Anterior hypopituitarism, Hypothalamic hamartoma	OMIM:241800
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, L...	ORPHA:3008
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ...	ORPHA:2232
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper...	OMIM:618363
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Camptodactyly of finger	ORPHA:2928
Baralle-Macken Syndrome	Obesity	OMIM:619255
Autoimmune Polyendocrinopathy Type 3	Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Thy...	ORPHA:227982
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Monosomy 13Q34	Insulin resistance, Fetal pyelectasis, Hypercalcemia, Obesity	ORPHA:96168
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Obesity, Nephropathy, Nephroblastoma	OMIM:194072
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh...	ORPHA:293987
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Tubulo...	ORPHA:358
Autoimmune Polyendocrinopathy Type 4	Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Thymoma, Anterior pituitary dysgen...	ORPHA:227990
13Q12.3 Microdeletion Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m...	ORPHA:412035
Angelman Syndrome Due To A Point Mutation	Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent...	ORPHA:411511
Scorpion Envenomation	Ketonuria, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase M...	ORPHA:466677
Alexander Disease Type I	Abnormal thalamic MRI signal intensity	ORPHA:363717
Laurence-Moon Syndrome	Obesity	OMIM:245800
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Patent ductus arteriosus, Abnormality of neuronal migration	OMIM:300049
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Axillary apocrine gland hypoplasia, H...	OMIM:181450
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami	OMIM:617542
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity	OMIM:618124
Hydranencephaly	Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland	ORPHA:2177
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Obesity	ORPHA:1035
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased body weight, Increased total bilirubin	ORPHA:890
Bardet-Biedl Syndrome 3	Obesity	OMIM:600151
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms...	OMIM:618430
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist flexion contracture	OMIM:300055
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79443
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Obesity, Tall stature	OMIM:618089
Subependymal Nodular Heterotopia	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ...	ORPHA:101030
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity	OMIM:615633
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Wagr Syndrome	Obesity	ORPHA:893
Idiopathic Neonatal Atrial Flutter	Maternal diabetes, Large for gestational age	ORPHA:45452
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu...	OMIM:270450
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth...	OMIM:616629
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Diabetes mellitus, Glycosuria, Hyperglycemia, Failure to thrive	OMIM:600001
Adnp Syndrome	Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper...	ORPHA:404448
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abnormal temper ta...	ORPHA:163681
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria	ORPHA:99802
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Obesity	ORPHA:464282
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:103580
Microtriplication 11Q24.1	Obesity, Bruxism	ORPHA:289522
Fg Syndrome Type 1	Cryptorchidism, Small pituitary gland	ORPHA:93932
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla...	OMIM:156200
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Lissencephaly 5	Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly	OMIM:615191
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death	OMIM:301021
Congenital Myopathy 9A	Obesity	OMIM:618822
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Hypogonadism, Obesity, Flexion contracture of toe	ORPHA:3409
Short Syndrome	Insulin resistance, Diabetes mellitus, Weight loss	ORPHA:3163
Whipple Disease	Hyponatremia, Cachexia, Splenomegaly, Insulin resistance, Hypothyroidism, Anemia	ORPHA:3452
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature	ORPHA:85325
Clark-Baraitser syndrome	Obesity, Tall stature	OMIM:300602
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy	ORPHA:2822
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Attention deficit hyperactivity disorder, Increased body weight, Impulsivity	ORPHA:589905
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Weaver Syndrome	Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly...	OMIM:277590
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Renal steatosis...	ORPHA:412
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity, Aggressive behavior	OMIM:619056
Solitary Fibrous Tumor	Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Urinary retention, Hy...	ORPHA:2126
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis...	ORPHA:89844
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De...	ORPHA:466791
Bardet-Biedl Syndrome 1	Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resistance,...	OMIM:209900
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Smith-Magenis Syndrome	Hyperactivity, Abnormality of the thyroid gland, Self hugging, Increased body weight, Head-bangin...	OMIM:182290
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty	OMIM:300354
Idiopathic Intracranial Hypertension	Obesity	ORPHA:238624
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Pica, Obesity, Aggressive behavior	OMIM:620191
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat...	ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Patent ductus arteriosus, Agenesis of corpus callosum	OMIM:610498
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Chilton-Okur-Chung Neurodevelopmental Syndrome	Cryptorchidism, Anterior pituitary hypoplasia	OMIM:619841
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph...	ORPHA:98794
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Obesity	ORPHA:171839
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus	OMIM:601612
Low Phospholipid-Associated Cholelithiasis	Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity	ORPHA:69663
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact...	OMIM:301039
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap...	ORPHA:94065
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity	ORPHA:464288
Megalencephaly	Truncal obesity	ORPHA:2477
Tatton-Brown-Rahman Syndrome	Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm	ORPHA:404443
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri...	OMIM:615873
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli...	ORPHA:280365
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit,...	ORPHA:3041
Werner Syndrome	Renal neoplasm, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, S...	ORPHA:902
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Death in infancy, Death in childhood	OMIM:620265
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Polyphagia, Self-mutilation, Aggressive behavior	ORPHA:251028
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Xp22.13P22.2 Duplication Syndrome	Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi...	ORPHA:284180
48,Xxxy Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli...	ORPHA:96263
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Decreased body weight, Obesity, Dysphagia	ORPHA:589821
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	ORPHA:226313
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Death in infancy	OMIM:617184
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr...	ORPHA:96182
Shox-Related Short Stature	Obesity	ORPHA:314795
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El...	ORPHA:91347
Rett Syndrome	Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic...	ORPHA:778
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Recurrent hypoglyce...	OMIM:124000
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Amoebiasis Due To Free-Living Amoebae	Abnormal hypothalamus morphology, Myocardial necrosis	ORPHA:68
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Familial Acute Necrotizing Encephalopathy	Abnormal thalamus morphology, Gliosis	ORPHA:88619
Müllerian Aplasia And Hyperandrogenism	Obesity, Increased serum testosterone level	ORPHA:247768
Stuve-Wiedemann Syndrome 2	Neonatal death, Stillbirth, Death in adolescence	OMIM:619751
Bardet-Biedl Syndrome 17	Polydipsia, Hypogonadism, Obesity	OMIM:615994
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in infancy, Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray ...	OMIM:614643
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di...	OMIM:619312
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age	OMIM:618272
Pancreatic Agenesis 1	Reduced C-peptide level, Failure to thrive, Neonatal insulin-dependent diabetes mellitus	OMIM:260370
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Hyperlipidemia, Delayed puberty	ORPHA:90154
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Carpenter Syndrome	Umbilical hernia, Obesity	ORPHA:65759
Cornelia De Lange Syndrome 5	Truncal obesity, Hypogonadism	OMIM:300882
Immunoneurologic Disorder, X-Linked	Neonatal death	OMIM:300076
Smith-Magenis Syndrome	Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, Self-injurious behavio...	ORPHA:819
Chromosome 16P13.3 Deletion Syndrome, Proximal	Failure to thrive, Obesity	OMIM:610543
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland	OMIM:619479
19P13.12 Microdeletion Syndrome	Hyperactivity, Precocious puberty, Obesity, Self-injurious behavior, Arthrogryposis multiplex con...	ORPHA:254346
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Obesity	ORPHA:2180
X-Linked Intellectual Disability, Hedera Type	Obesity	ORPHA:93952
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Death in childhood	OMIM:614096
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Truncal obesity	OMIM:300957
Marbach-Schaaf Neurodevelopmental Syndrome	Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619680
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st...	ORPHA:3464
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Achilles tendon contracture, Obesity	OMIM:615418
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Ring Chromosome Y Syndrome	Male hypogonadism, Streak ovary, Obesity	ORPHA:261529
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ...	ORPHA:85293
White-Sutton Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypoglycemic seizur...	OMIM:616364
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Obesity, Aggressive behavior	OMIM:620250
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf...	ORPHA:125
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica...	ORPHA:98855
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Posterior pituitary hypoplasia, Abnormality of the anterior pituitary	ORPHA:75389
Adiposis Dolorosa	Hypothyroidism, Obesity	ORPHA:36397
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy...	ORPHA:86816
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, S...	ORPHA:79240
Macrocephaly/Autism Syndrome	Penile freckling, Large for gestational age, Splenomegaly, Obesity, Overgrowth, Lymphopenia	OMIM:605309
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Momo Syndrome	Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature	ORPHA:2563
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Obesity, Nephrotic syndrome, Hypoplasia of the...	ORPHA:110
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:164180
X-Linked Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica...	ORPHA:98853
Atelis Syndrome 2	Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi...	OMIM:620185
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia	ORPHA:254534
Pde4D Haploinsufficiency Syndrome	Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity	ORPHA:439822
Congenital Muscular Dystrophy With Cerebellar Involvement	Decreased thalamic volume, Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum, ...	ORPHA:370959
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Compulsive be...	ORPHA:1001
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th...	ORPHA:261197
Joubert Syndrome 37	Obesity	OMIM:619185
Biliary, Renal, Neurologic, And Skeletal Syndrome	Neonatal death, Bile duct proliferation, Anterior pituitary hypoplasia, Diabetes insipidus	OMIM:619534
Neurooculorenal Syndrome	Ectopic posterior pituitary, Decreased circulating cortisol level, Cryptorchidism, Decreased circ...	OMIM:620305
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia	ORPHA:90153
Down Syndrome	Umbilical hernia, Hypothyroidism, Type II diabetes mellitus, Obesity	ORPHA:870
Pyruvate Dehydrogenase E1-Beta Deficiency	Corticospinal tract hypoplasia, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:255138
Lysinuric Protein Intolerance	Failure to thrive, Hypolysinemia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin ...	OMIM:222700
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion	OMIM:619057
Walker-Warburg Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:899
1P36 Deletion Syndrome	Camptodactyly of finger, Hypothyroidism, Polyphagia, Obesity, Self-injurious behavior, Hypogonadi...	ORPHA:1606
Sandhoff Disease, Infantile Form	Abnormal thalamic MRI signal intensity	ORPHA:309155
Stankiewicz-Isidor Syndrome	Cryptorchidism, Pineal cyst	OMIM:617516
Oculoskeletodental Syndrome	Abnormal thalamus morphology	ORPHA:557003
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary	ORPHA:98889
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Truncal obesity, Hypogonadism	ORPHA:127
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior	OMIM:610253
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep...	OMIM:619229
Peripartum Cardiomyopathy	Diabetes mellitus, Abnormality of thyroid physiology, Anemia, Obesity	ORPHA:563
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Obesity, Type I diabetes mellitus, Moderate albuminuria, Hydronephrosis	OMIM:619269
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Simplified gyral pattern, Lissencephaly, Agenesis of the...	ORPHA:300570
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Periventricular heterotopia	OMIM:618974
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Hypothalamic ha...	OMIM:619775
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Patent ductus arteriosus, Abnormality of neuronal migrati...	ORPHA:35107
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Angelman Syndrome	Hyperactivity, Paroxysmal bursts of laughter, Obesity	OMIM:105830
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy	OMIM:242500
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity	ORPHA:444013
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Congenital hypothyroidism, Aplasia/Hypoplasia of th...	ORPHA:2255
White-Sutton Syndrome	Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav...	ORPHA:468678
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horseshoe kidney, Ve...	ORPHA:444077
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive	ORPHA:905
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Type II diabetes mellitus	ORPHA:401923
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus, Miscarriage	ORPHA:1947
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Hypothyroidism	ORPHA:69665
Bardet-Biedl Syndrome 12	Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis	OMIM:615989
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Periventricular heterotopia	ORPHA:98892
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Abnormality of neuronal migration	ORPHA:93274
Carpenter Syndrome 1	Omphalocele, Precocious puberty, Obesity, Camptodactyly, Umbilical hernia, Joint contracture of t...	OMIM:201000
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Kleefstra Syndrome Due To A Point Mutation	Inguinal hernia, Large for gestational age, Precocious puberty, Self-injurious behavior, Overgrow...	ORPHA:261652
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss	ORPHA:251071
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism,...	OMIM:607872
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Joubert Syndrome 8	Obesity	OMIM:612291
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Obesity, Compulsive behaviors	OMIM:618443
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Kleefstra Syndrome	Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Abnormal repetitive mannerisms, Se...	ORPHA:261494
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con...	OMIM:614098
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Sotos Syndrome	Tall stature, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowth, Attent...	OMIM:117550
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Umbilical hernia, Abnormal repeti...	OMIM:301066
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Hypoglycemia, Small for gestational age, Hyperammonemia, Hyperglycemia, F...	OMIM:220111
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Failure to thrive, Femoral hernia, Obesity	ORPHA:96147
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Death in childhood	OMIM:619334
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity	ORPHA:3224
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera...	ORPHA:96253
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion	ORPHA:254881
Rabin-Pappas Syndrome	Overgrowth, Obesity, Failure to thrive in infancy	OMIM:620155
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Small for gestational age, Insulin re...	OMIM:606721
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Abnormal thalamus morphology	ORPHA:404440
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D...	ORPHA:478
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Congenital Disorder Of Glycosylation, Type Iit	Pineal cyst	OMIM:618885
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal thalamic MRI signal intensity	ORPHA:485421
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Cohen Syndrome	Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ...	OMIM:216550
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Death in infancy, Focal T2 hyperintense thalamic lesion	OMIM:619046
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Beckwith-Wiedemann Syndrome	Ureteral duplication, Neonatal hypoglycemia, Large for gestational age, Vesicoureteral reflux, Ne...	ORPHA:116
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Neurocutaneous Melanocytosis	Death in infancy, Abnormality of neuronal migration	ORPHA:2481
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Elbow flexion contracture, Obesity	OMIM:618493
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti...	OMIM:616078
Cach Syndrome	T2 hypointense thalamus, Dysgyria	ORPHA:135
Thanatophoric Dysplasia	Gray matter heterotopia, Patent ductus arteriosus	ORPHA:2655
Distal Deletion 12Q	Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo...	ORPHA:96149
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon	ORPHA:2570
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc...	ORPHA:99889
Vici Syndrome	Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum	ORPHA:1493
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Stillbirth, Death in childhood, Neonatal death, Pachygyria	OMIM:614922
Bardet-Biedl Syndrome 20	Proteinuria, Obesity, Male hypogonadism, Hypercholesterolemia, Micropenis	OMIM:619471
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity	OMIM:617296
Cardiomyopathy, Dilated, 2H	Neonatal death	OMIM:620203
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Abnormality of neuronal migration, Renal tubular epithelial necrosis, Polymicrogyria,...	ORPHA:157
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac...	ORPHA:466950
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2211
Holoprosencephaly 2	Adrenal hypoplasia, Diabetes insipidus, Anterior pituitary agenesis	OMIM:157170
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, De...	ORPHA:2959
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behaviors, Abnormal...	ORPHA:369950
Achondroplasia	Obesity	ORPHA:15
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon	ORPHA:2165
Fanconi Anemia, Complementation Group O	Neonatal death, Death in infancy, Miscarriage	OMIM:613390
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity	ORPHA:251038
Neuroferritinopathy	T2 hypointense thalamus, Abnormal thalamic MRI signal intensity	ORPHA:157846
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin	OMIM:614008
3P25.3 Microdeletion Syndrome	Abnormal thalamus morphology	ORPHA:435638
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria	OMIM:617397
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Ulnar-Mammary Syndrome	Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty	ORPHA:3138
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:881
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod...	ORPHA:244242
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Neutral Lipid Storage Myopathy	Diabetes mellitus, Hypertriglyceridemia, Obesity, Pineal cyst, Abnormal circulating creatine kina...	ORPHA:98908
Tenorio Syndrome	Enuresis, Hypoglycemia, Hypoinsulinemia	OMIM:616260
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Rena...	ORPHA:369837
Chiari Malformation Type Ii	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:207950
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Abnormal thalamic MRI signal intensity	ORPHA:70595
Rhombencephalosynapsis	Fusion of the left and right thalami	ORPHA:59315
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Patent ductus arteriosus, Gray matter heterotopia, Neonatal death, Pachyg...	OMIM:620024
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus	OMIM:210720
Liver Disease, Severe Congenital	Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Hypo...	OMIM:619991
Larsen-Like Syndrome, Lethal Type	Neonatal death	OMIM:245650
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Agenesis of corpus callosum, Simplified gyral pattern, Lissencephaly	OMIM:615219
Cohen Syndrome	Failure to thrive in infancy, Obesity, Delayed puberty	ORPHA:193
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Diabetes mellitus, Hypogonadism, Obesity	OMIM:614231
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia	OMIM:620072
Microcephalic Primordial Dwarfism, Dauber Type	Obesity	ORPHA:319675
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia	OMIM:187600
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary	ORPHA:508488
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration	OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Pachygyria, Abnormality of neuronal migration, Renal tubular epithelial necrosis, Polymicrogyria,...	ORPHA:228308
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder	ORPHA:2637
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ...	ORPHA:466943
Neutral Lipid Storage Disease With Ichthyosis	Abnormal granulocyte morphology, Hypertriglyceridemia, Obesity, Abnormal circulating creatine kin...	ORPHA:98907
3C Syndrome	Death in infancy, Abnormality of neuronal migration	ORPHA:7
Neu-Laxova Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2671
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cryptorchidism, Small pituitary gland, Decreased response to growth hormone stimulation test, Thy...	OMIM:619503
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Juvenile Neuronal Ceroid Lipofuscinosis	Focal T2 hyperintense thalamic lesion	ORPHA:79264
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Molybdenum Cofactor Deficiency, Complementation Group C	Neonatal death, Polymicrogyria	OMIM:615501
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Obesity	OMIM:614947
Alström Syndrome	Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado...	ORPHA:64
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death	OMIM:602199
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Restrictive behavior, Hyperactivity, Failure to thrive, Impulsivity, Aggressive behavior, Overwei...	OMIM:619475
Xylt1-Cdg	Truncal obesity	ORPHA:370930
Afibrinogenemia, Congenital	Neonatal death, Death in infancy, Death in adolescence, Death in childhood	OMIM:202400
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Abnormal repetitive mannerisms, Obesity	OMIM:618653
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Joubert Syndrome	Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Chops Syndrome	Vesicoureteral reflux, Splenomegaly, Obesity, Horseshoe kidney	OMIM:616368
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
White-Kernohan Syndrome	Hypothyroidism, Obesity, Attention deficit hyperactivity disorder	OMIM:619426
Galloway-Mowat Syndrome	Pachygyria, Abnormality of neuronal migration	ORPHA:2065
45,X/46,Xy Mixed Gonadal Dysgenesis	Decreased serum testosterone concentration, Streak ovary, Hypospadias, Abnormality of the kidney,...	ORPHA:1772
Orofaciodigital Syndrome Vi	Periventricular nodular heterotopia, Polymicrogyria, Agenesis of corpus callosum, Hypothalamic ha...	OMIM:277170
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Patent ductus arteriosus	ORPHA:1860
Perlman Syndrome	Hypoglycemia, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Large for gesta...	OMIM:267000
Coffin-Lowry Syndrome	Death in early adulthood, Abnormality of neuronal migration	ORPHA:192
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b...	ORPHA:529962
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia	OMIM:614105
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Periventricular heterotopia	OMIM:618870
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Japanese Encephalitis	Paucity of anterior horn motor neurons, Focal T2 hyperintense thalamic lesion, Abnormal thalamus ...	ORPHA:79139
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Severe failure to t...	ORPHA:740
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death	OMIM:619817
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Lissencephaly	OMIM:617822
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Abnormality of neuronal migration	ORPHA:261236
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Hypothalamic hamartoma	ORPHA:2754
Boomerang Dysplasia	Neonatal death	OMIM:112310
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia	ORPHA:48652
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in...	ORPHA:353281
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration	ORPHA:2318
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria, Death in childhood	OMIM:214100
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Hepatic periportal necrosis	ORPHA:26791
Combined Oxidative Phosphorylation Defect Type 7	Abnormal thalamic MRI signal intensity	ORPHA:254930
Williams-Beuren Syndrome	Recurrent urinary tract infections, Diabetes mellitus, Renal insufficiency, Hypercalcemia, Failur...	OMIM:194050
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Hypopituitarism, Agenesis of corpus callosum, Periventricular nodular he...	OMIM:603671
Joubert Syndrome 39	Overweight, Joint contracture of the 5th finger	OMIM:619562
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon	ORPHA:2720
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia	OMIM:619833
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Small for gestational age, Limb joint contracture, Decreased resting energy expenditure, Achilles...	ORPHA:404454
Carney Complex	Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma,...	ORPHA:1359
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Obesity,...	ORPHA:567
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum	ORPHA:314679
Pmm2-Cdg	Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, In...	ORPHA:79318
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Glomerulonephritis, Impaired neutroph...	ORPHA:2968
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Oculoectodermal Syndrome	Supernumerary nipple, Pineal cyst	OMIM:600268
Digeorge Syndrome	Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ...	OMIM:188400
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Truncal obesity, Flexion contracture, Limb joint contracture	OMIM:301072
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:247200
Bohring-Opitz Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:605039
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Orofaciodigital Syndrome I	Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Hypothalamic ha...	OMIM:311200
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Posterior pituitary hypoplasia, Abnormality of neuronal migration	ORPHA:464311
Primrose Syndrome	Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Aggressive beha...	OMIM:259050
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618476
Leigh Syndrome	Agenesis of corpus callosum, Abnormal thalamic MRI signal intensity	ORPHA:506
Aicardi Syndrome	Dilated third ventricle, Partial agenesis of the corpus callosum, Gray matter heterotopia, Pachyg...	OMIM:304050
Witteveen-Kolk Syndrome	Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s...	OMIM:613406
Spondylodysplastic Ehlers-Danlos Syndrome	Cryptorchidism, Agenesis of pineal gland, Hypogonadism	ORPHA:536471
Koolen-De Vries Syndrome	Gray matter heterotopia, Patent ductus arteriosus	OMIM:610443
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal...	ORPHA:353277
Myhre Syndrome	Small for gestational age, Obesity, Camptodactyly	OMIM:139210
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Lissencephaly, Polymicrogyria,...	ORPHA:468631
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter...	ORPHA:75857
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618733
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Pseudohypoparathyroidism, Obesity	OMIM:617157
Acute Disseminated Encephalomyelitis	Abnormal thalamic MRI signal intensity	ORPHA:83597
Rubinstein-Taybi Syndrome 1	Hyperactivity, Small for gestational age, Premature thelarche, Impulsivity, Flexion contracture, ...	OMIM:180849
Holoprosencephaly	Anterior hypopituitarism, Panhypopituitarism, Abnormality of neuronal migration	ORPHA:2162
Aceruloplasminemia	Abnormal thalamic MRI signal intensity	ORPHA:48818
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Abdominal obesity, Hypoplasia of the ovary, Flexion contracture	OMIM:619321
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microlisse...	OMIM:210710
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Chronic Thromboembolic Pulmonary Hypertension	Increased HDL cholesterol concentration, Myeloproliferative disorder, Elevated circulating C-reac...	ORPHA:70591
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C...	ORPHA:363958
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum	OMIM:305450
Holoprosencephaly 14	Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia	OMIM:619895
Tako-Tsubo Cardiomyopathy	Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration	ORPHA:66529
Tay-Sachs Disease	Abnormal thalamic MRI signal intensity	ORPHA:845
Mednik Syndrome	Neonatal death, Death in infancy, Death in childhood	OMIM:609313
Meacham Syndrome	Death in infancy, Patent ductus arteriosus, Stillbirth, Death in childhood, Neonatal death	OMIM:608978
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami	OMIM:619306
Pallister-Hall Syndrome	Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h...	ORPHA:672
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Cryptorchidism, Delayed puberty, Pineal cyst	OMIM:300967
16Q24.3 Microdeletion Syndrome	Periventricular heterotopia	ORPHA:261250
Carpenter Syndrome 2	Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture	OMIM:614976
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum	OMIM:618820
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Igg4-Related Ophthalmic Disease	Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadenitis	ORPHA:449563
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Hypogonadism, Paroxysmal bursts of laughter, Obesity	OMIM:309580
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Pagod Syndrome	Death in infancy, Abnormality of neuronal migration	ORPHA:991
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repetitive m...	OMIM:612474
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Truncal obesity, Compulsive behaviors, Attention deficit hyperac...	ORPHA:199
Holoprosencephaly 7	Fusion of the left and right thalami, Partial agenesis of the corpus callosum, Agenesis of corpus...	OMIM:610828
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Pineal cyst	ORPHA:513456
Fontaine Progeroid Syndrome	Death in infancy, Periventricular heterotopia, Patent ductus arteriosus, Gray matter heterotopia,...	OMIM:612289
Hydrolethalus Syndrome 1	Gray matter heterotopia, Stillbirth, Agenesis of corpus callosum, Abnormal cortical gyration	OMIM:236680
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:352665
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Partial agenesis of the corpus callosum, Dilated third ventricle, Periv...	ORPHA:434179
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thalamic hemorrhage	ORPHA:464321
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death	OMIM:619362
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Agenesis of corpus callosum, Type II lissencephaly	OMIM:615287
Sacral Agenesis With Vertebral Anomalies	Neonatal death	OMIM:615709
Orofaciodigital Syndrome Xiv	Periventricular heterotopia, Patent ductus arteriosus, Partial agenesis of the corpus callosum, S...	OMIM:615948
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Hereditary Cryohydrocytosis With Reduced Stomatin	Decreased thalamic volume	ORPHA:168577
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity	ORPHA:79138
Smith-Lemli-Opitz Syndrome	Patent ductus arteriosus, Death in infancy, Partial agenesis of the corpus callosum, Periventricu...	OMIM:270400
Arima Syndrome	Gray matter heterotopia	OMIM:243910
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp...	OMIM:601803
Norrie Disease	Cryptorchidism, Diabetes mellitus, Abnormality of the diencephalon, Delayed puberty	ORPHA:649
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Genitopatellar Syndrome	Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:606170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Periventricular heterotopia, Patent ductus arteriosus, Hypoplastic anterior commissure, Polymicro...	ORPHA:261552
Mowat-Wilson Syndrome	Patent ductus arteriosus, Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:261537

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 Sim1

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 Sim1.

No publications found that use IMPC mice or data for Sim1.

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
Sim1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sim1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Sim1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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