Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Hyperactivity, Small for gestational age, Hirsutism |
ORPHA:85288 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia |
OMIM:620270 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Impaired social interactions, Pol... |
ORPHA:329249 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Hereditary Geniospasm |
|
Abnormal social behavior, Intention tremor |
ORPHA:53372 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Panhypophysitis |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Reduced circula... |
ORPHA:95513 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71526 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Spermatogenic Failure 14 |
|
Abnormal prolactin level, Abnormal circulating testosterone concentration, Elevated circulating f... |
OMIM:615842 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia |
OMIM:615924 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... |
ORPHA:90793 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Impaired ability to form peer relationships, Increased serum serotonin, Abn... |
OMIM:608049 |
Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, L... |
OMIM:618362 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms |
OMIM:619470 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Frontal upsweep of hair |
OMIM:300983 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... |
OMIM:610600 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m... |
OMIM:618718 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal social behavior... |
ORPHA:444002 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... |
ORPHA:556037 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Hsd10 Disease |
|
Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Obesity, Inappropriate laughte... |
ORPHA:411515 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Gand Syndrome |
|
Sparse hair, Hyperactivity, Tics, Inappropriate laughter |
OMIM:615074 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... |
ORPHA:556030 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Ane Syndrome |
|
Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior p... |
ORPHA:157954 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior, Dystonia |
ORPHA:382 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Failure to thrive, Decreased response to growth hormone stimulation test, Aggressi... |
OMIM:615286 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Sparse axillary hair, Reduced circulating prolactin concent... |
ORPHA:91355 |
Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Shyness, Cryptorchidism, Increased circulating gonadotropin level... |
ORPHA:163971 |
Prolactin Deficiency, Isolated |
|
Reduced circulating prolactin concentration |
OMIM:264110 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Shyness, Hypothyroidism, ... |
ORPHA:449291 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Impaired social interactions, Dysphagi... |
OMIM:619738 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,... |
OMIM:614104 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Decreased bod... |
OMIM:616185 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
OMIM:608747 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ha... |
ORPHA:424 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal bursts of lau... |
ORPHA:228402 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
47,Xyy Syndrome |
|
Hyperactivity, Impulsivity, Cryptorchidism, Increased circulating gonadotropin level, Increased s... |
ORPHA:8 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormo... |
ORPHA:90796 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... |
ORPHA:530983 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Hand tremor, Weight loss, Act... |
ORPHA:99819 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, Impulsivity, Abnormality of the testis size, Increased circulating gonadotropi... |
ORPHA:99330 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Perrault Syndrome 1 |
|
Intention tremor, Increased circulating gonadotropin level, Ataxia, Gait ataxia |
OMIM:233400 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Frontal balding, Tremor, Unsteady gait, Abnormal emotion, Attention defici... |
ORPHA:1942 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Trem... |
ORPHA:98794 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ele... |
OMIM:618187 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Hyperinsulinemia, Gait ataxia, Limb dystonia... |
ORPHA:363400 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... |
ORPHA:300385 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Increased body mass index, Decreased thyroid-stimulating hormone level,... |
ORPHA:300373 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Impaired so... |
OMIM:610042 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha... |
ORPHA:189427 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... |
ORPHA:228360 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Abnormality of the testis size, Increased circulating gonadotropin level, Prim... |
ORPHA:261534 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level |
OMIM:311360 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399805 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618117 |
Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... |
OMIM:620242 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... |
OMIM:618086 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increas... |
ORPHA:525731 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ... |
OMIM:617865 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level |
OMIM:233300 |
48,Xxxy Syndrome |
|
Tremor, Cryptorchidism, Obesity, Irritability, Hypogonadism, Type II diabetes mellitus, Attention... |
ORPHA:96263 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Hypertriglyceridemia, Abnormal eating behavior, Aggressive behavior,... |
ORPHA:247585 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... |
OMIM:176400 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Disinhibition, Gait disturb... |
ORPHA:43 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... |
OMIM:619665 |
Adenylosuccinase Deficiency |
|
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthotonus, Inappropriate l... |
OMIM:103050 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior, Agitation, Ataxia, Disinhibition |
ORPHA:1020 |
Apparent Mineralocorticoid Excess |
|
Abnormality of circulating cortisol level, Polydipsia, Failure to thrive, Decreased circulating a... |
ORPHA:320 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Obesity, Progressive gait ataxia, Fair hair... |
OMIM:105830 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in females, Aggressive behavior, Trem... |
ORPHA:72 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Athetosis, Dystonia, Self-mutilation |
ORPHA:52503 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... |
OMIM:619834 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:617690 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren... |
OMIM:617600 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Obesity, Low frustration toleranc... |
ORPHA:163681 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Central hypo... |
OMIM:300912 |
Premature Ovarian Failure 8 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... |
OMIM:615723 |
Premature Ovarian Failure 2A |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300511 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Ataxia, Abnormal eat... |
ORPHA:209905 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... |
OMIM:273250 |
Ppoma |
|
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Abnormalit... |
ORPHA:97278 |
Androgen Insensitivity Syndrome |
|
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... |
OMIM:300068 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
African Trypanosomiasis |
|
Alopecia, Akinesia, Aggressive behavior, Tremor, Abnormality of the endocrine system, Weight loss... |
ORPHA:3385 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla... |
ORPHA:3044 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social... |
ORPHA:309256 |
Somatostatinoma |
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Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97283 |
Estrogen Resistance Syndrome |
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Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... |
OMIM:228300 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Steppage gait, Dec... |
ORPHA:168563 |
Premature Ovarian Failure 18 |
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Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... |
OMIM:619203 |
Grfoma |
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Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Anorexia, Neoplasm o... |
ORPHA:97261 |
Perrault Syndrome 4 |
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Increased circulating gonadotropin level, Obesity, Gait ataxia, Hypoplasia of the ovary, Decrease... |
OMIM:615300 |
Pallister-Hall Syndrome |
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Thyroid hypoplasia, Adrenal hypoplasia, Large for gestational age, Precocious puberty, Cryptorchi... |
ORPHA:672 |
Fg Syndrome Type 1 |
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Broad-based gait, Cryptorchidism, Frontal upsweep of hair, Small pituitary gland, Compulsive beha... |
ORPHA:93932 |
Vipoma |
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Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Premature Ovarian Failure 10 |
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Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... |
OMIM:612885 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Metachromatic Leukodystrophy, Adult Form |
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Dystonia, Depression, Progressive gait ataxia, Difficulty walking, Neoplasm of the gallbladder, E... |
ORPHA:309271 |
Orthostatic Hypotension 1 |
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Reduced circulating prolactin concentration |
OMIM:223360 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Increased circulating gonadotropin level, Decreased testicular size |
ORPHA:399808 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia, Emot... |
OMIM:610217 |
Glucagonoma |
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Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... |
ORPHA:97280 |
Premature Ovarian Failure 7 |
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Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:612964 |
46,Xx Gonadal Dysgenesis |
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Streak ovary, Ataxia, Sparse pubic hair, Increased circulating gonadotropin level, Decreased seru... |
ORPHA:243 |
Metachromatic Leukodystrophy, Juvenile Form |
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Progressive gait ataxia, Dystonia, Emotional lability, Abnormal social behavior, Intention tremor |
ORPHA:309263 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:177907 |
Premature Ovarian Failure 21 |
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Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... |
OMIM:620311 |
Premature Ovarian Failure 9 |
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Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:615724 |
Perrault Syndrome 3 |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... |
OMIM:614129 |
Tsh-Secreting Pituitary Adenoma |
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Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypog... |
ORPHA:91347 |
Complete Androgen Insensitivity Syndrome |
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Sparse axillary hair, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, T... |
ORPHA:99429 |
Tuberous Sclerosis Complex |
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Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pituitary adenom... |
ORPHA:805 |
Choreoacanthocytosis |
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Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Self-mutilation of t... |
ORPHA:2388 |
Premature Ovarian Failure 6 |
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Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:612310 |
Leydig Cell Hypoplasia |
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Hypergonadotropic hypogonadism, Female hypogonadism, Testicular gonadoblastoma, Cryptorchidism, I... |
ORPHA:755 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Hypergonadotropic hypogo... |
ORPHA:2232 |
Niemann-Pick Disease Type C |
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Limb dystonia, Axial dystonia, Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Progres... |
ORPHA:646 |
Ovarian Dysgenesis 3 |
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Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:614324 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Choreoathetosis, Blep... |
OMIM:234200 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal... |
ORPHA:314647 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Anorexia, Pancreati... |
ORPHA:99889 |
Mend Syndrome |
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Hyperactivity, Failure to thrive, Aggressive behavior, Cryptorchidism, Abnormal social behavior |
ORPHA:401973 |
Frasier Syndrome |
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Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... |
ORPHA:347 |
Cushing Disease |
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Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... |
ORPHA:96253 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... |
ORPHA:289548 |
Isolated Splenogonadal Fusion |
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Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... |
ORPHA:457083 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Testi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Testi... |
ORPHA:363958 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ... |
ORPHA:353281 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Short nail, Inability to walk, Irritability, Long eyelashes, Abnormal social behavior, Abnormal a... |
ORPHA:1675 |
Microcephaly 29, Primary, Autosomal Recessive |
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Emotional lability, Hyperactivity, Ataxia, Thick eyebrow |
OMIM:620047 |
Ovarian Hyperstimulation Syndrome |
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Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
46,Xy Partial Gonadal Dysgenesis |
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Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hypogonadism, Elevate... |
ORPHA:251510 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Trichiasis, Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Abnormal f... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Trichiasis, Highly arched eyebrow, Aggressive behavior, Cryptorchidism, Abnormal f... |
ORPHA:353277 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, High urinary gonadotropin level, I... |
ORPHA:99413 |
Turner Syndrome |
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Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, High urinary gonadotropin level, I... |
ORPHA:881 |
Mosaic Monosomy X |
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Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, High urinary gonadotropin level, I... |
ORPHA:99228 |
Monosomy X |
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Alopecia, Failure to thrive in infancy, Hashimoto thyroiditis, High urinary gonadotropin level, I... |
ORPHA:99226 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Sparse pubic hair, Increased circulating gonadotropin level, Highly arched eyebrow |
OMIM:110100 |
Williams Syndrome |
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Ataxia, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, Prec... |
ORPHA:904 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Increased circ... |
ORPHA:1772 |
Testicular Agenesis |
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Vanishing testis, Decreased serum testosterone concentration, Increased circulating gonadotropin ... |
ORPHA:325124 |