Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Autism |
|
Impaired ability to form peer relationships, Increased serum serotonin |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Increased serum serotonin, Lack of peer relationships |
OMIM:300496 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Increased serum serotonin |
OMIM:608636 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Increased serum serotonin |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Increased serum serotonin, Lack of peer relationships |
OMIM:300425 |
Adrenal Hypoplasia, Cytomegalic Type |
|
Primary adrenal insufficiency, Congenital adrenal hypoplasia |
OMIM:202155 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... |
OMIM:619755 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity |
OMIM:145295 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronism |
OMIM:103900 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Decreased circulating dehydroepiandrosterone concentration, Anxiety, Increased serum testosterone... |
OMIM:610489 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619613 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Impaired social interactions, No social interaction, Aggressive behavior, Hyperinsulinemia |
ORPHA:329249 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Shyness |
OMIM:618221 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating corticosterone level, Increased ci... |
OMIM:610600 |
Adrenocortical Carcinoma |
|
Increased circulating androstenedione concentration, Adrenocortical carcinoma, Anxiety, Increased... |
ORPHA:1501 |
46,Xx Sex Reversal 5 |
|
Increased serum testosterone level |
OMIM:618901 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Premature pubarche, Increased serum testoste... |
ORPHA:90795 |
Glucocorticoid Deficiency 5 |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test |
OMIM:617825 |
Polyembryoma |
|
Increased serum testosterone level, Increased serum serotonin, Abnormal circulating gonadotropin ... |
ORPHA:180229 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Elevated seru... |
ORPHA:556037 |
Autoimmune Polyendocrinopathy Type 1 |
|
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... |
ORPHA:3453 |
Gonadoblastoma |
|
Increased serum testosterone level |
ORPHA:206484 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Increase... |
ORPHA:90791 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Decreased circulating aldosterone level, Elevated seru... |
ORPHA:556030 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Elevated circulating luteinizing hormone level, Increased ... |
ORPHA:99429 |
Non-Functioning Pituitary Adenoma |
|
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropin defici... |
ORPHA:91349 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration |
ORPHA:314478 |
Functioning Gonadotropic Adenoma |
|
Central diabetes insipidus, Delayed puberty, Panhypopituitarism, Increased serum testosterone lev... |
ORPHA:91348 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Male... |
ORPHA:90793 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
47,Xyy Syndrome |
|
Impaired social interactions, Increased serum testosterone level, Increased circulating gonadotro... |
ORPHA:8 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretory adrenocorti... |
ORPHA:404 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Primary hypercortisolism, Adrenal hyperplasia, Decreased circul... |
OMIM:219080 |
Pituicytoma |
|
Central diabetes insipidus, Hypogonadotropic hypogonadism, Abnormality of circulating adrenocorti... |
ORPHA:251623 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... |
OMIM:619146 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperal... |
ORPHA:403 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Adrenogenital syndrome, Increased serum test... |
OMIM:202010 |
X-Linked Intellectual Disability, Van Esch Type |
|
Impaired social interactions, Decreased serum testosterone concentration, Male hypogonadism, Type... |
ORPHA:163976 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Increased circulating cortisol level, Diabetes mellitus, Primary hypercortis... |
OMIM:615830 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... |
ORPHA:179494 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level |
ORPHA:247768 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Adrenal insufficiency, Decreased circulating cortisol level |
OMIM:103230 |
Partial Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Elevated circulating luteinizing hormone level, Increased ... |
ORPHA:90797 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Congenital adrenal hyperplasia |
ORPHA:96181 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Shyness, Male hypogonadism, Increased circulating gon... |
ORPHA:163971 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Increased serum testosterone level, Abnormality of the thyroid gla... |
ORPHA:562 |
Rabson-Mendenhall Syndrome |
|
Diabetic ketoacidosis, Hypothyroidism, Increased pineal volume, Increased serum testosterone leve... |
ORPHA:769 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Increased circulating androgen concentration |
ORPHA:79320 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Decreased circulating follicle stimulating hormon... |
OMIM:229070 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Increased circulating gonadotropin level |
ORPHA:64739 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Increased circulating progesterone, Hypogona... |
ORPHA:90794 |
Insulin-Resistance Syndrome Type B |
|
Diabetic ketoacidosis, Hyperinsulinemia, Increased serum testosterone level, Insulin-resistant di... |
ORPHA:2298 |
Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619326 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased serum testosterone concentration, Decreased serum estrad... |
OMIM:614841 |
46,Xy Sex Reversal 11 |
|
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... |
OMIM:273250 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... |
ORPHA:66628 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
ORPHA:453533 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... |
ORPHA:251274 |
Early-Onset Schizophrenia |
|
Suicidal ideation, Lack of peer relationships, No social interaction, Unhappy demeanor, Anxiety, ... |
ORPHA:96369 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Paradoxical increased cortisol secretion on dexamethasone suppression t... |
OMIM:610475 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Hyperlipidemia, Increased urinary cortisol level, Testicular neoplasm, Paradoxical increased cort... |
ORPHA:189439 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulation test, Macronodul... |
ORPHA:189427 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Testicular microlithiasis, Decreased circulating luteinizing hormo... |
OMIM:228300 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Emotional lability, Decreased serum testosterone concentration |
OMIM:609195 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Low frustration tolerance, Decreased serum testosterone concentrat... |
ORPHA:261534 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal circulating t... |
ORPHA:786 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308750 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Anxiety, Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Primary gonadal insufficiency, Delayed puberty, Polycystic ovaries, Cryptorchidism, Elevated circ... |
ORPHA:90796 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Abnormal circulating androgen level, Macroorchidism, Hypera... |
ORPHA:90790 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Hypogonadism |
OMIM:300869 |
Premature Ovarian Failure 16 |
|
Elevated circulating follicle stimulating hormone level, Decreased serum estradiol |
OMIM:618723 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased serum test... |
ORPHA:52901 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia |
ORPHA:369929 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308700 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Low frustration tolerance, Decreased serum testosterone concentrat... |
ORPHA:99330 |
Female Restricted Epilepsy With Intellectual Disability |
|
Anxiety, Aggressive behavior, Abnormal social behavior |
ORPHA:101039 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Premature pubarche |
OMIM:201810 |
Ane Syndrome |
|
Hypogonadotropic hypogonadism, Abnormal response to ACTH stimulation test, Delayed puberty, Anter... |
ORPHA:157954 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration |
ORPHA:101006 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating progesterone, Abnormal ovarian morphology, Abnormal response to ACTH stimul... |
ORPHA:95699 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Decreased serum estradiol, Male hypogonadism, Increas... |
ORPHA:168563 |
Dopa-Responsive Dystonia |
|
Abnormal social behavior, Anxiety, Panic attack, Emotional lability, Irritability, Agoraphobia |
ORPHA:255 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Increased circulating androgen concentration, Diabetes mellitus, Premature adrenarche |
ORPHA:2976 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Emotional lability, Irritability, Decreased serum testosterone concentration, Hypogonadism |
OMIM:201100 |
Adenohypophysitis |
|
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Hashimoto thyroidi... |
ORPHA:95512 |
Panhypophysitis |
|
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... |
ORPHA:95513 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased serum testosterone level |
OMIM:264090 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619761 |
Apparent Mineralocorticoid Excess |
|
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Decreased cir... |
ORPHA:320 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypogonadotropic hypogonadism, Increased serum testosterone level, Hyperthyroidism, Increased ser... |
ORPHA:3455 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Hypogonadotropic hypogonadism, Decreased serum testosterone concentration, Testic... |
ORPHA:465508 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Anxiety, Decreased serum testosterone concent... |
ORPHA:432 |
Hsd10 Disease |
|
Abnormal social behavior |
ORPHA:391417 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Suicidal ideation, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, Anxiety, Increased uri... |
ORPHA:99889 |
Leydig Cell Hypoplasia |
|
Primary gonadal insufficiency, Female hypogonadism, Decreased serum testosterone concentration, M... |
ORPHA:755 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Eleva... |
ORPHA:3044 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
ORPHA:226307 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis |
OMIM:611812 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Decreased serum testosterone concentration, Decreased serum estradiol, Hypergonadotropic hypogona... |
ORPHA:2959 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Testi... |
OMIM:305400 |
Meningioma |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
ORPHA:2495 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Paradoxical increased cor... |
ORPHA:96253 |
48,Xxxy Syndrome |
|
Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Anxiety, Irritabili... |
ORPHA:96263 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Primary gonadal insufficiency, Delayed puberty, Decreased serum testostero... |
ORPHA:2232 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... |
ORPHA:293978 |
Childhood Absence Epilepsy |
|
Anxiety, Abnormal social behavior |
ORPHA:64280 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone concentration, De... |
ORPHA:3464 |
46,Xy Partial Gonadal Dysgenesis |
|
Adrenal insufficiency, Primary gonadal insufficiency, Delayed puberty, Elevated circulating lutei... |
ORPHA:251510 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Abnormality of... |
ORPHA:361 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
Woodhouse-Sakati Syndrome |
|
Hypogonadotropic hypogonadism, Decreased serum testosterone concentration, Elevated circulating t... |
OMIM:241080 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Increased circulating renin le... |
ORPHA:289548 |
Testicular Agenesis |
|
Increased circulating gonadotropin level, Decreased serum testosterone concentration |
ORPHA:325124 |
Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Abnormality of thyroid physiology, Anxiety, Decreased serum testosterone concen... |
ORPHA:273 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Increased circulating renin le... |
ORPHA:168558 |
46,Xx Sex Reversal 2 |
|
Decreased serum testosterone concentration |
OMIM:278850 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309263 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis |
OMIM:273395 |
Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis |
OMIM:236680 |
Prader-Willi Syndrome Due To Translocation |
|
Impaired social interactions, Happy demeanor, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:177907 |
Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Decreased serum testosterone concentration, Aggressive behavior |
ORPHA:495875 |
Metachromatic Leukodystrophy, Adult Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309271 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... |
ORPHA:1772 |
Fg Syndrome Type 1 |
|
Small pituitary gland, Abnormal social behavior |
ORPHA:93932 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal aggressive, impulsive or violent behavior, Irritability, Abnormal social behavior |
ORPHA:1675 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior, Self-injurious behavior, Anxiety, Parathyroid adenoma, Pancreatic endoc... |
ORPHA:805 |
Robinow Syndrome |
|
Decreased serum testosterone concentration |
ORPHA:97360 |
Alström Syndrome |
|
Primary hypothyroidism, Precocious puberty in females, Puberty and gonadal disorders, Hyperinsuli... |
ORPHA:64 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Abnormal social behavior, Anxiety, Pr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Primary adrenal insufficiency, Pineal cyst, Abnormal social behavior, Anxiety, Pr... |
ORPHA:363958 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Aggressive behavior, Abnormal social behavior |
ORPHA:314647 |
Mend Syndrome |
|
Aggressive behavior, Abnormal social behavior |
ORPHA:401973 |
African Trypanosomiasis |
|
Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, Abnormal prol... |
ORPHA:3385 |
Niemann-Pick Disease Type C |
|
Apathy, Low frustration tolerance, Aggressive behavior, Abnormal social behavior |
ORPHA:646 |
Williams Syndrome |
|
Hypogonadotropic hypogonadism, Hypothyroidism, Abnormal social behavior, Anxiety, Precocious pube... |
ORPHA:904 |