Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... |
OMIM:609968 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... |
ORPHA:263458 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Polyphagia, Aggressive behavior |
ORPHA:329249 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... |
ORPHA:35878 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... |
ORPHA:79299 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... |
OMIM:147630 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... |
OMIM:620211 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... |
ORPHA:206484 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries |
ORPHA:79084 |
Obesity Due To Sim1 Deficiency |
|
Attention deficit hyperactivity disorder, Hyperinsulinemia, Polyphagia, Glucose intolerance |
ORPHA:369873 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... |
ORPHA:411593 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism |
ORPHA:393 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia |
OMIM:620195 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells |
OMIM:606762 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... |
OMIM:615363 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hyp... |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet h... |
ORPHA:276580 |
Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:66628 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Polyphagia, Type II diabetes mellitus |
ORPHA:71529 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... |
ORPHA:293964 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:179494 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypoket... |
ORPHA:276575 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Polycystic ovaries, Abnormal ci... |
ORPHA:280356 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71526 |
Bdv Syndrome |
|
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... |
OMIM:619326 |
Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyp... |
OMIM:262190 |
Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Insulin resistance, Hyperinsulinemia, Polyphagia |
OMIM:617885 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Attention deficit hyperactivity disorder, Goiter, Increased circul... |
OMIM:188570 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Bangstad Syndrome |
|
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno... |
ORPHA:1227 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Hyperactivity, Dysphagia, Impulsivity |
OMIM:620448 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Insulinoma |
|
Hyperinsulinemia, Neoplasm of the adrenal gland, Polyphagia, Primary hyperparathyroidism, Pituita... |
ORPHA:97279 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Type II diabetes mel... |
ORPHA:3085 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Agitation, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycemia,... |
ORPHA:276556 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... |
OMIM:604367 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... |
ORPHA:85327 |
8p23.1 deletion syndrome |
|
Hyperactivity, Cryptorchidism |
DECIPHER:39 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Self-injurious behavior, Agitation |
OMIM:619970 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
Morm Syndrome |
|
Hyperactivity, Micropenis, Aggressive behavior |
ORPHA:75858 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche |
OMIM:616033 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:240900 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... |
ORPHA:79644 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit hyperactivity ... |
OMIM:619927 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... |
ORPHA:314478 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
Mody |
|
Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal circulating insulin conce... |
ORPHA:552 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Perlman Syndrome |
|
Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology, Hypoplasia of penis |
ORPHA:2849 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... |
ORPHA:2298 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... |
ORPHA:99886 |
Graves Disease |
|
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Polyph... |
OMIM:275000 |
Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior |
OMIM:605899 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin resistanc... |
ORPHA:90301 |
Donohue Syndrome |
|
Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyp... |
OMIM:246200 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Hypoketotic hypoglycemia, Fasting hypoglycemi... |
ORPHA:263455 |
Tetragametic Chimerism |
|
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... |
ORPHA:199310 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Decreased circulating luteinizing hormone level, Testicular microli... |
OMIM:228300 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... |
OMIM:600955 |
Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, Insulin resistance, Overgr... |
ORPHA:528 |
X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... |
ORPHA:300373 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
ORPHA:453533 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Multiple Endocrine Neoplasia Type 4 |
|
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... |
ORPHA:276152 |
Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, In... |
ORPHA:90797 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... |
ORPHA:90793 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, Imp... |
ORPHA:8 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hypopla... |
ORPHA:3464 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Rabson-Mendenhall Syndrome |
|
Polydipsia, Clitoral hypertrophy, Increased serum testosterone level, Fasting hypoglycemia, Long ... |
ORPHA:769 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Decreased adiponectin level, Insulin resistance, Polycystic ovaries, Insu... |
ORPHA:79085 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Fragile X Syndrome |
|
Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ... |
OMIM:300624 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba... |
ORPHA:90795 |
Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... |
ORPHA:3130 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Macroorchidism, Impulsivity |
OMIM:300143 |
Prader-Willi Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Externa... |
OMIM:176270 |
Hyperthyroidism, Nonautoimmune |
|
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... |
OMIM:609152 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... |
OMIM:620141 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Agitation, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical diseas... |
OMIM:610475 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Increased serum testosterone level, Abnormality of the ovary, Abnormal ... |
ORPHA:247768 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Polycystic ovaries, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:79086 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Labial pseudohypertrophy, Polycystic ... |
OMIM:151660 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Hyperinsulinemia, Decreased serum leptin, Polyphagia, Polycystic ovaries, D... |
OMIM:608594 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Retinitis Pigmentosa |
|
Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Familial Gestational Hyperthyroidism |
|
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating... |
ORPHA:99819 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Motor stereotypy, Attention defici... |
OMIM:617600 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... |
ORPHA:90796 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Hyperinsulinemia, Decreased serum leptin, Polyphagia, Type II diabetes mell... |
OMIM:269700 |
Leprechaunism |
|
Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Enlarged ovaries, Incre... |
ORPHA:508 |
X-Linked Adrenoleukodystrophy |
|
Abnormality of adrenal physiology, Hyperactivity, Adrenal insufficiency, Disinhibition, Attention... |
ORPHA:43 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Functioning Gonadotropic Adenoma |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:91348 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... |
OMIM:608747 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Hypothyroidism, Hyperthyroidism... |
ORPHA:449291 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Abnormality of the ovary |
ORPHA:2795 |
Solitary Fibrous Tumor |
|
Hypoinsulinemia, Abnormal prostate morphology, Vaginal neoplasm, Prostate cancer, Recurrent hypog... |
ORPHA:2126 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating... |
ORPHA:424 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyc... |
ORPHA:71212 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia, Dysphagia |
OMIM:613327 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Attention deficit hyperactivity d... |
OMIM:620185 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Hyperinsulinemia |
ORPHA:230 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Steinert Myotonic Dystrophy |
|
Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H... |
ORPHA:273 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... |
ORPHA:64739 |
Alstrom Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... |
OMIM:203800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Hyperglycemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus |
OMIM:248370 |
Atypical Werner Syndrome |
|
Delayed puberty, Neoplasm of the thyroid gland, Hyperinsulinemia, Ovarian neoplasm, Abnormal test... |
ORPHA:79474 |
Familial Adenomatous Polyposis 4 |
|
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma |
OMIM:617100 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Vaginal atre... |
OMIM:209900 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Abnormality of the ovary, Hashimoto thyroiditis, ... |
ORPHA:99413 |
Turner Syndrome |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Abnormality of the ovary, Hashimoto thyroiditis, ... |
ORPHA:881 |
Mosaic Monosomy X |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Abnormality of the ovary, Hashimoto thyroiditis, ... |
ORPHA:99228 |
Monosomy X |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Abnormality of the ovary, Hashimoto thyroiditis, ... |
ORPHA:99226 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary |
ORPHA:3109 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Liver Disease, Severe Congenital |
|
Hypospadias, Pancreatic hypoplasia, Abnormal circulating thyroid hormone concentration, Biliary h... |
OMIM:619991 |
Alström Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... |
ORPHA:64 |
Pmm2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperplastic labia majora, Hyperi... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia, Vaginitis |
ORPHA:2968 |