Autism, Susceptibility To, 20 |
|
Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
47,Xyy Syndrome |
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Hyperactivity, Impulsivity, Increased circulating gonadotropin level, Increased serum testosteron... |
ORPHA:8 |
Cln3 Disease |
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Aggressive behavior, Depression, Increased circulating androgen concentration, Dementia, Dysphagi... |
ORPHA:228346 |
X-Linked Intellectual Disability, Van Esch Type |
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Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:163976 |
Adrenocortical Carcinoma |
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Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Glucocorticoid Resistance, Generalized |
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Increased circulating cortisol level, Increased circulating androstenedione concentration, Increa... |
OMIM:615962 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... |
ORPHA:90795 |
Non-Functioning Pituitary Adenoma |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Polyembryoma |
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Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Childhood Disintegrative Disorder |
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Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Pituicytoma |
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Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Functioning Gonadotropic Adenoma |
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Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... |
ORPHA:91348 |
46,Xx Sex Reversal 5 |
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Increased serum testosterone level |
OMIM:618901 |
Complete Androgen Insensitivity Syndrome |
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Elevated circulating luteinizing hormone level, Increased serum estradiol, Increased circulating ... |
ORPHA:99429 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Short attention span, Obesity, Compulsive behaviors, Attention deficit hyperactivity disorder, Ab... |
ORPHA:444002 |
Gonadoblastoma |
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Increased serum testosterone level |
ORPHA:206484 |
Müllerian Aplasia And Hyperandrogenism |
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Obesity, Increased serum testosterone level |
ORPHA:247768 |
Ovarian Fibrothecoma |
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Abnormal circulating hormone concentration, Increased serum testosterone level |
ORPHA:314478 |
Alg6-Cdg |
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Puberty and gonadal disorders, Failure to thrive, Increased circulating androgen concentration |
ORPHA:79320 |
Insulin-Resistance Syndrome Type B |
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Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
X-Linked Intellectual Disability, Cilliers Type |
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Hypergonadotropic hypogonadism, Shyness, Increased circulating gonadotropin level, Absence of sec... |
ORPHA:163971 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Maternal Uniparental Disomy Of Chromosome 6 |
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Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Ane Syndrome |
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Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Rabson-Mendenhall Syndrome |
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Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... |
ORPHA:769 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... |
ORPHA:90794 |
Mccune-Albright Syndrome |
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Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali... |
ORPHA:562 |
Spermatogenic Failure 15 |
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Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:616950 |
Partial Androgen Insensitivity Syndrome |
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Elevated circulating luteinizing hormone level, Increased serum estradiol, Increased circulating ... |
ORPHA:90797 |
Hsd10 Disease |
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Short attention span, Abnormal social behavior, Dysphagia |
ORPHA:391417 |
Spermatogenic Failure 2 |
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Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:108420 |
49,Xxxyy Syndrome |
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Eunuchoid habitus, Increased circulating gonadotropin level, Primary gonadal insufficiency, Low f... |
ORPHA:261534 |
Obesity Due To Congenital Leptin Deficiency |
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Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
49,Xyyyy Syndrome |
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Eunuchoid habitus, Impulsivity, Increased circulating gonadotropin level, Primary gonadal insuffi... |
ORPHA:99330 |
Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Female Restricted Epilepsy With Intellectual Disability |
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Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
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Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... |
OMIM:300869 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abnormal soc... |
ORPHA:1020 |
Ovarian Hyperstimulation Syndrome |
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Increased circulating gonadotropin level, Increased serum testosterone level |
ORPHA:64739 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... |
ORPHA:3077 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Elevated circulating follicle stimulating hormon... |
OMIM:620103 |
Spastic Paraplegia 26, Autosomal Recessive |
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Emotional lability, Decreased serum testosterone concentration |
OMIM:609195 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... |
ORPHA:99889 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Delayed Puberty, Self-Limited |
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Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Wiedemann-Rautenstrauch Syndrome |
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Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:3455 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
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Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:616030 |
Spermatogenic Failure 28 |
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Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev... |
OMIM:618086 |
Autosomal Recessive Spastic Paraplegia Type 26 |
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Decreased serum testosterone concentration, Pseudobulbar paralysis |
ORPHA:101006 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:305400 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Irritability, Hypogonadism, Emotional lability, Decreased serum testosterone concentration, Failu... |
OMIM:201100 |
Wiedemann-Rautenstrauch Syndrome |
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Small for gestational age, Dysphagia, Hypoplasia of the thymus, Increased serum testosterone leve... |
OMIM:264090 |
Spermatogenic Failure, X-Linked, 4 |
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Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308700 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Hypergonadotropic hypogonadism, Small for gestational age, Insulin-resistant diabetes mellitus, D... |
ORPHA:2959 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration, Hypoplasia of th... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating luteinizing h... |
ORPHA:453533 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Absence of secondary sex c... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... |
OMIM:614897 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
Panhypophysitis |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Reduced circula... |
ORPHA:95513 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Elevated circula... |
OMIM:273250 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, G... |
ORPHA:52901 |
48,Xxxy Syndrome |
|
Obesity, Irritability, Hypogonadism, Type II diabetes mellitus, Attention deficit hyperactivity d... |
ORPHA:96263 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums |
ORPHA:530983 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Increased circulating gonadotropin level, Decreased serum estradiol, Male hypogonad... |
ORPHA:168563 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration |
ORPHA:2976 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Progressive psychomotor deterioration, Depression, Emotional lability, Deme... |
ORPHA:309271 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Abnormal social behavior, Progressive psychomotor deterioration, Emotional ... |
ORPHA:309263 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Elevated circulating follicle ... |
ORPHA:3044 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Weight loss, Decreased serum testosterone conce... |
ORPHA:465508 |
Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... |
OMIM:158330 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Steinert Myotonic Dystrophy |
|
Short attention span, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to gr... |
ORPHA:273 |
Fg Syndrome Type 1 |
|
Small pituitary gland, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal s... |
ORPHA:93932 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Increased circulating gonadotropin level, Ab... |
ORPHA:755 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... |
ORPHA:90790 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pancreatic endoc... |
ORPHA:805 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence o... |
ORPHA:2232 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Aggressive behavior, Dysphagia, Depression, Dementia, Disin... |
ORPHA:646 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... |
ORPHA:168558 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... |
OMIM:250790 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... |
ORPHA:251510 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Decreased serum testosterone concentration, Attention deficit hyperactivity disorder, Aggressive ... |
ORPHA:495875 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Decreased response to growth hormone stimulation test, Small for gestational age, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Slender build, Decreased response to growth hormone stimulation test, Small for gestational age, ... |
ORPHA:363958 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Memory impairment, Abnormal social behavior, Aggressive behavior |
ORPHA:314647 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Alström Syndrome |
|
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... |
ORPHA:64 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... |
ORPHA:1772 |
Mend Syndrome |
|
Failure to thrive, Hyperactivity, Abnormal social behavior, Aggressive behavior |
ORPHA:401973 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Small for gestational age |
ORPHA:97360 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353277 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... |
OMIM:201810 |
46,Xx Sex Reversal 2 |
|
Decreased serum testosterone concentration |
OMIM:278850 |
Testicular Agenesis |
|
Increased circulating gonadotropin level, Decreased serum testosterone concentration |
ORPHA:325124 |
Williams Syndrome |
|
Hypogonadotropic hypogonadism, Failure to thrive in infancy, Precocious puberty, Obesity, Depress... |
ORPHA:904 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Aggressive behavior, Low frustration tolerance, Decreased body weigh... |
OMIM:300534 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Aggressive behavior |
ORPHA:85279 |