Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... |
OMIM:300869 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... |
ORPHA:163976 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating... |
ORPHA:163971 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... |
ORPHA:453533 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:99330 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... |
ORPHA:432 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... |
ORPHA:649929 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... |
ORPHA:157954 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... |
ORPHA:398069 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... |
ORPHA:54595 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Ravine Syndrome |
|
Failure to thrive, Apnea, Anorexia, Decreased body weight |
ORPHA:99852 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
Aarskog-Scott Syndrome |
|
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... |
OMIM:305400 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Hypogonadism, Decreased serum testosterone concentration, Failure to thrive, Decre... |
OMIM:201100 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea |
OMIM:615228 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... |
ORPHA:254516 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... |
ORPHA:2959 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Weight loss, Infertility, E... |
ORPHA:465508 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... |
OMIM:614962 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
2Q24 Microdeletion Syndrome |
|
Central apnea, Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, ... |
ORPHA:1617 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... |
OMIM:265120 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency |
ORPHA:101006 |
Precocious Puberty, Central, 1 |
|
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... |
OMIM:176400 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Failure to thrive, Apneic episodes in infancy, Stereotypical hand wringing |
ORPHA:500545 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Cryptorchidism, Micropenis, Supernumerary nipple |
OMIM:618929 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, Am... |
OMIM:202010 |
Congenital Myopathy 14 |
|
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Respi... |
OMIM:618414 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism, Short stature |
OMIM:275120 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma |
OMIM:619908 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Apnea |
OMIM:610992 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid ... |
ORPHA:2234 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... |
OMIM:610628 |
Ovarian Dysgenesis 4 |
|
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... |
OMIM:616185 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Temple Syndrome |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... |
OMIM:616222 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,... |
ORPHA:189 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Camptodactyly, Apnea, Respiratory insufficiency, Dysphagia |
OMIM:618198 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Failure to thrive, Apnea |
OMIM:618235 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Myoclonus, Intractable, Neonatal |
|
Impaired oral bolus formation, Apnea, Dysphagia |
OMIM:617235 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Obesity |
ORPHA:254525 |
Joubert Syndrome 23 |
|
Polydactyly, Tachypnea, Apnea |
OMIM:616490 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... |
OMIM:264300 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... |
ORPHA:96184 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea |
OMIM:607745 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia... |
OMIM:618253 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Failure to thrive, Apnea, Respiratory insufficiency, Dysphagia |
OMIM:618226 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation |
ORPHA:166063 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Frontal upsweep of ha... |
OMIM:619797 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea |
OMIM:601764 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Failure to thrive, Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Small hand, Sh... |
ORPHA:3095 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Hypophosphatasia, Infantile |
|
Death in infancy, Apnea, Anorexia, Bowing of the legs, Stillbirth, Metaphyseal cupping, Failure t... |
OMIM:241500 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... |
ORPHA:254531 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Secondary amenorrhea, Premature pubarche |
OMIM:612847 |
Pontocerebellar Hypoplasia, Type 6 |
|
Failure to thrive, Apnea, Death in childhood |
OMIM:611523 |
Ovarian Dysgenesis 5 |
|
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... |
OMIM:617690 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Apnea, Respiratory insufficiency |
ORPHA:209370 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Patellar hypoplasia, Hypox... |
ORPHA:2257 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Small hand, Short foot, Agitation, Bruxism, Recurrent hand flapping, Hyperventilation |
OMIM:617903 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Failure to thrive, Apnea, Respiratory insufficiency |
OMIM:618228 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature, Decreased b... |
ORPHA:314621 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Congenital... |
ORPHA:96181 |
48,Xxyy Syndrome |
|
Apnea, Asthma, Obesity, Abnormal shoulder morphology, Radioulnar synostosis, Hip dysplasia, Atten... |
ORPHA:10 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Apnea |
OMIM:619048 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Femoral bowing, Tibial bowing, Blotching pigmentation of the skin, Sparse hair, Short tibi... |
OMIM:601559 |
Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... |
ORPHA:247768 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Apnea, Central hypoventilation, Small for gestational age, Neonatal death |
OMIM:620167 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Nemaline Myopathy 2 |
|
Respiratory insufficiency due to muscle weakness, Apnea, Slender build, Dysphagia |
OMIM:256030 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus... |
OMIM:262190 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Growth delay, Testicular atrophy, Short stature |
OMIM:618165 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Death in childhood |
OMIM:618225 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Neonatal respiratory distress, Apnea, Camptodactyly |
OMIM:610015 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Pigmentary retinopathy, Aspiration pneumonia, Dysphagia, Abnormal repe... |
ORPHA:79264 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Apnea, Respiratory insufficiency |
OMIM:617290 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Split hand, Apnea, Respiratory failure |
ORPHA:168486 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea |
OMIM:617933 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... |
ORPHA:562 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration |
OMIM:609195 |
Joubert Syndrome 33 |
|
Syndactyly, Apnea |
OMIM:617767 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cryptorchidism, Premature pubarche |
ORPHA:457205 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Joubert Syndrome 7 |
|
Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tachypnea, ... |
OMIM:611560 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
Joubert Syndrome 30 |
|
Postaxial hand polydactyly, Tachypnea, Apnea |
OMIM:617622 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation, Dysphagia |
OMIM:618233 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... |
ORPHA:99725 |
Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Short stature |
ORPHA:589618 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Low anterior hairline |
ORPHA:320385 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus |
ORPHA:280195 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Low anterior hairline |
OMIM:615031 |
Intellectual Developmental Disorder, Autosomal Recessive 76 |
|
Precocious puberty in females |
OMIM:619931 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Benign Familial Neonatal Epilepsy |
|
Apnea |
ORPHA:1949 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive |
ORPHA:293181 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... |
ORPHA:813 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation, Apnea |
OMIM:240200 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Severe short stature, Small for gestational age, Growth delay, Focal T2 hyperintense thalamic les... |
OMIM:619057 |
Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Cachexia, Short foot, Bruxism, Stereotypical hand wringing |
OMIM:312750 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating gonadotropin ... |
ORPHA:243 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Small scrotum, Small for gestational age, External ge... |
ORPHA:97360 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Apnea, Small hand, Obesity, Bruxism |
OMIM:300055 |
Pontocerebellar Hypoplasia, Type 16 |
|
Apnea, Dysphagia |
OMIM:619527 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Apnea |
OMIM:614883 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Cryptorchidism, Growth delay, Gonadal dysgenesis, Hypogonadism |
ORPHA:3306 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Pontocerebellar Hypoplasia Type 2 |
|
Impaired oropharyngeal swallow response, Apnea, Oral-pharyngeal dysphagia |
ORPHA:2524 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Benign Familial Infantile Epilepsy |
|
Apnea |
ORPHA:306 |
Pallister-Hall-Like Syndrome |
|
Micropenis, Short stature, Anterior hypopituitarism, Hypothalamic hamartoma |
OMIM:241800 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Benign Familial Neonatal-Infantile Seizures |
|
Apnea |
ORPHA:140927 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Small for gestational age, Apneic episodes precipitated by illness, fatigue,... |
OMIM:312170 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Failure to thrive, Decreased thalamic volume |
OMIM:613668 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Apnea, Anterior tibial bowing, Arachnodactyly, Aggressive behavior, ... |
OMIM:612313 |
Fatal Familial Insomnia |
|
Weight loss, Apnea, Dysphagia |
OMIM:600072 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Decreased body weight |
OMIM:300958 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea, Dysphagia |
OMIM:617143 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea |
ORPHA:71277 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea, Hip dysplasia |
OMIM:619606 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Proximal placement of thumb, Hip dislocation, Camptodactyly... |
OMIM:314580 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Frontal hirsutism, Apnea, Generalized hirsutism, Tapered finger |
OMIM:612949 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Overlapping toe, Apnea, Hip dislocation, Respiratory failure, Long eyelashes, Dy... |
OMIM:617301 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... |
ORPHA:495875 |
Marshall-Smith Syndrome |
|
Brittle hair, Apnea, Synophrys, Distal widening of metacarpals, Coxa vara, Aspiration pneumonia, ... |
OMIM:602535 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Dysphagia |
ORPHA:163961 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Apnea, Rocker bottom foot, Long fingers, Postaxial hand ... |
ORPHA:521426 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Growth delay, Testicular atrophy |
OMIM:613987 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration |
OMIM:608800 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Highly arched eyebrow, Pigmentary retinopathy, Neonatal breath... |
OMIM:608629 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Brushfield spots, Metatarsus adductus, Death in childhood, Pigmentary retinopathy, Camptod... |
OMIM:214110 |
Myotonia Fluctuans |
|
Stridor, Apnea, Choking episodes |
ORPHA:99734 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d... |
ORPHA:769 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty |
ORPHA:457260 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Cough, Stridor, Dysphagia, Failure to thrive, Recurrent aspiration pneum... |
OMIM:230900 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93924 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Polydactyly, Aspiration pneumo... |
ORPHA:314655 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Clinodactyly of the 5th finger, Apnea, Respiratory insufficiency, Aggressive behavior |
OMIM:608093 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Rocker bottom foot, Postaxial polydactyly, Long fingers, Respiratory insufficiency, Dyspha... |
OMIM:617527 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Apnea |
OMIM:614498 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Congenital hip dislocation, Femur fracture, Respiratory insufficiency due to muscl... |
OMIM:618291 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Pan... |
OMIM:246200 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea |
OMIM:612233 |
Optic Pathway Glioma |
|
Precocious puberty, Growth delay |
ORPHA:2086 |
Genitopatellar Syndrome |
|
Hip contracture, Sparse scalp hair, Apnea, Hypoplastic ilia, Patellar aplasia, Fine hair, Radioul... |
ORPHA:85201 |
Woolly Hair Nevus |
|
Precocious puberty |
ORPHA:79414 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
Cach Syndrome |
|
Premature ovarian insufficiency, T2 hypointense thalamus, Primary amenorrhea, Secondary amenorrhe... |
ORPHA:135 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disord... |
OMIM:619580 |
Propionic Acidemia |
|
Failure to thrive, Tachypnea, Apnea |
OMIM:606054 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Schwartz-Jampel Syndrome |
|
Apnea, Low anterior hairline, Coxa vara, Generalized hirsutism, Death in infancy, Respiratory ins... |
ORPHA:800 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
Alexander Disease Type I |
|
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia |
ORPHA:363717 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Hypothalamic atrophy, Obesity |
ORPHA:2822 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Respiratory ar... |
OMIM:617248 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Alopecia, Apnea, Long eyelashes, Overlapping fingers, Fair... |
ORPHA:79330 |
Central Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:178029 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal acetabulum morphology, Apnea, Postaxial polydactyly, Supernumerary nipple, Proximal femo... |
ORPHA:397715 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Highly arched eyebrow, Central Y-sh... |
ORPHA:2754 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Highly arched eyebrow, Hand polydactyly, Foot polydactyly, Abnormal pa... |
ORPHA:475 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Dysphagia, Decreased body weight, Neonatal death |
OMIM:608013 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... |
ORPHA:100924 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Clinodactyly of the 5th finger, Abs... |
OMIM:609638 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hy... |
OMIM:114290 |
Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... |
ORPHA:528 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Death in infancy, Neonatal respiratory distress, Apnea, Tapered toe, Tapered finger, Hy... |
OMIM:608836 |
Hyperekplexia 1 |
|
Aspiration, Apnea, Hip dislocation |
OMIM:149400 |
Pontocerebellar Hypoplasia, Type 7 |
|
Hypopigmentation of the skin, Synophrys, Apnea, Hirsutism |
OMIM:614969 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Inspiratory stridor |
OMIM:600721 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea, Dysphagia, Compulsive behaviors, Aggressive behavior |
OMIM:615157 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology, Abnormality of the adrenal glands, Myocardial necrosis |
ORPHA:68 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia |
OMIM:602522 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Femoral bowing, Tibial bowing, Respiratory failure, Neonatal... |
OMIM:616482 |
Joubert Syndrome With Oculorenal Defect |
|
Apnea, Highly arched eyebrow, Tachypnea, Hand polydactyly, Foot polydactyly |
ORPHA:2318 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Abnormal thalamus morphology |
ORPHA:404440 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Sudden episodic apnea, Intermittent episodes of respiratory insuffici... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Sudden episodic apnea, Intermittent episodes of respiratory insuffici... |
ORPHA:98914 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit... |
ORPHA:2131 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Apnea |
ORPHA:1129 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:90695 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Split hand, Low anterior hairline, Abnormal epiphysis morphology, Abnormal hip ... |
ORPHA:579 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
OMIM:176270 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... |
ORPHA:2298 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Apnea, Respiratory insufficiency |
OMIM:618886 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty |
OMIM:619877 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Apnea |
OMIM:210200 |
Hyperekplexia 3 |
|
Respiratory arrest, Apnea |
OMIM:614618 |
Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
Joubert Syndrome With Renal Defect |
|
Hand polydactyly, Apnea, Abnormal pattern of respiration, Highly arched eyebrow |
ORPHA:220497 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Intrauterine growth retardation, Growth delay, Unilateral cryptorchidism |
ORPHA:447980 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Impulsivity, Apneic episodes in infancy, Aspiration pneumonia, Choking episodes |
ORPHA:35069 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Short stature, Postnat... |
OMIM:206900 |
Joubert Syndrome With Ocular Defect |
|
Apnea, Highly arched eyebrow, Hand polydactyly, Foot polydactyly, Abnormal pattern of respiration |
ORPHA:220493 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Apnea, Thin nail, Aggressive behavior, Bruxism, Sparse hair, Hypervent... |
OMIM:617799 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Large for gestational age, Albinism, Neonatal death |
OMIM:600501 |
Tenorio Syndrome |
|
Recurrent pneumonia, Apnea, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... |
OMIM:146510 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... |
ORPHA:89938 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... |
ORPHA:96182 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea |
OMIM:619814 |
Tarp Syndrome |
|
Finger syndactyly, Apnea, Rocker bottom foot, Postaxial polydactyly, Abnormal hair pattern, Hypop... |
ORPHA:2886 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Apnea |
ORPHA:137754 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Clinodactyly of the 5th finger, Agitation, Apnea |
OMIM:618056 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Intrauterine growth retardation, Hypoth... |
ORPHA:254346 |
Auriculocondylar Syndrome 1 |
|
Apnea |
OMIM:602483 |
Joubert Syndrome 1 |
|
Central apnea, Hyperactivity, Episodic tachypnea, Highly arched eyebrow, Aggressive behavior, Pos... |
OMIM:213300 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Failure to thrive, Increased circulating androgen concentration |
ORPHA:79320 |
Myotonia, Potassium-Aggravated |
|
Stridor, Apneic episodes in infancy |
OMIM:608390 |
Coach Syndrome 2 |
|
Apneic episodes in infancy |
OMIM:619111 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Neopla... |
ORPHA:370348 |
Hermansky-Pudlak Syndrome 10 |
|
Ocular albinism, Apnea, Albinism |
OMIM:617050 |
Orofaciodigital Syndrome Xvi |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Apnea |
OMIM:617563 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Apnea, Respiratory insufficiency |
OMIM:614462 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia |
OMIM:620073 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Large for gestational age |
ORPHA:79644 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Pigmentary retinopathy, Dysphagia, Failure to thri... |
ORPHA:255210 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Abnormal location of the eyebrow, Equinus calcaneus, Repetitive compulsive behavio... |
ORPHA:522077 |
Biotinidase Deficiency |
|
Alopecia, Tachypnea, Apnea |
OMIM:253260 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Stridor, Blotching pigmentation of the skin, Aspiration |
OMIM:614653 |
Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neuromuscular dysphagia, Hip dysplasia, Sudden episodic apnea |
ORPHA:466722 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
Shprintzen-Goldberg Syndrome |
|
Bowing of the long bones, Arachnodactyly, Apnea, Camptodactyly of finger, Genu valgum, Abnormal m... |
ORPHA:2462 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Apnea, Broad hallux, Thick hair, Short tibia, Tachypnea, Adactyly, Broad first... |
ORPHA:2751 |
Necrotizing Enterocolitis |
|
Small for gestational age, Apnea |
ORPHA:391673 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency |
OMIM:618222 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Apnea, Anorexia, Weight loss |
ORPHA:20 |
Illum Syndrome |
|
Apnea |
OMIM:208155 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
Biotinidase Deficiency |
|
Respiratory distress, Alopecia, Apnea, Hyperventilation |
ORPHA:79241 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Short femur, Apnea, Aggressive behavior, Polydactyly, Failur... |
ORPHA:17 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea |
ORPHA:439218 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Failure to thrive, Short stature, Large for gestational age |
ORPHA:261652 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Tongue thrusting, Apnea, Cardiorespiratory arrest |
OMIM:608643 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... |
ORPHA:96191 |
Slc35A2-Cdg |
|
Failure to thrive in infancy, Short stature, Precocious puberty, Elevated circulating thyroid-sti... |
ORPHA:356961 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Short stature |
OMIM:300322 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Failure to thrive, Overlapping fingers, Apnea |
OMIM:609069 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Dysphagia |
OMIM:619482 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Pheochromocytoma, Hyperhidrosis |
ORPHA:2874 |
Joubert Syndrome With Hepatic Defect |
|
Postaxial hand polydactyly, Apnea, Abnormal pattern of respiration, Highly arched eyebrow |
ORPHA:1454 |
Osteopathia Striata With Cranial Sclerosis |
|
Arachnodactyly, Apnea, Osteopathia striata, Fibular hypoplasia, Clinodactyly of the 5th finger, C... |
OMIM:300373 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty |
OMIM:301032 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Postaxial hand polydactyly, Postaxial foot polydactyly, Failur... |
OMIM:608091 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Short stature, Precocious puberty, Obesity, Delayed puberty, Hypoth... |
ORPHA:819 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Apnea, Internally rotated shoulders, Synophrys, Clinodac... |
OMIM:619503 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea |
OMIM:261680 |
Carpenter Syndrome 1 |
|
Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Patent ductus art... |
OMIM:201000 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Abnormality of the uterus |
ORPHA:59315 |
Myhre Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc... |
ORPHA:2588 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Intrauterine growth retardation, Abnormality of the diencephalon |
ORPHA:2570 |
9P13 Microdeletion Syndrome |
|
Precocious puberty, Short stature, External genital hypoplasia |
ORPHA:324313 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology |
ORPHA:467166 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Failure to thrive |
OMIM:619046 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Asthma, Metaphyse... |
ORPHA:3206 |
Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology, Short stature |
ORPHA:557003 |
Bohring-Opitz Syndrome |
|
Apnea, Synophrys, Severe failure to thrive, Metacarpophalangeal joint contracture, Hypertrichosis |
ORPHA:97297 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Failure to thrive, Apnea |
ORPHA:395 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Apnea, Abnormality of hair texture, Abnormal epiphysis morphology, Chro... |
ORPHA:667 |
Ogden Syndrome |
|
Congenital hip dislocation, Apnea, Sandal gap, Broad hallux, Metatarsus valgus, Sparse eyebrow, L... |
OMIM:300855 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Obesity |
ORPHA:163681 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Growth delay, Short stature |
OMIM:163200 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Patent ductus arteriosus, Disproportionate short stature, Truncal obesity, Ab... |
ORPHA:2637 |
Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Precocious puberty, Obesity, Growth delay, Type I diabetes mellitus |
OMIM:619269 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Failure to thrive |
OMIM:252010 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic sinusitis |
OMIM:615636 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportionate short stature, Tr... |
OMIM:210720 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
Mosaic Variegated Aneuploidy Syndrome |
|
Abnormality of skin pigmentation, Apnea, Clinodactyly of the 5th finger, Multiple cafe-au-lait spots |
ORPHA:1052 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96092 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Obesity |
OMIM:619312 |
Bainbridge-Ropers Syndrome |
|
Supernumerary nipple, Precocious puberty, Cryptorchidism, Growth delay, Intrauterine growth retar... |
OMIM:615485 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
East Syndrome |
|
Polydipsia, Salt craving |
ORPHA:199343 |
Tay-Sachs Disease |
|
Precocious puberty, Abnormal thalamic MRI signal intensity |
ORPHA:845 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Growth delay, Abnormal mitochondrial shape, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
Cln3 Disease |
|
Increased circulating androgen concentration |
ORPHA:228346 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia |
OMIM:304800 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Xp21 Deletion Syndrome |
|
Finger clinodactyly, Apneic episodes in infancy |
ORPHA:261476 |
Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Pseudobulbar paralysis, Apnea, Dysphagia |
ORPHA:98889 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Abnormal thalamus morphology |
ORPHA:435638 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula |
OMIM:608980 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Rhizomelia, Hypospadias |
OMIM:615877 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Anorexia |
ORPHA:223 |
Slc39A8-Cdg |
|
Cutaneous syndactyly of toes, Sudden episodic apnea, Failure to thrive in infancy |
ORPHA:468699 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Obesity, Fai... |
ORPHA:2322 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
Diethylstilbestrol Syndrome |
|
Central apnea, Small for gestational age |
ORPHA:1916 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Short stature, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Abnormality of the diencephalon, Cryptorchidism, Uterine rupture, Er... |
ORPHA:649 |
Alexander Disease |
|
Diabetes mellitus, Precocious puberty, Hyperhidrosis, Failure to thrive, Hypothyroidism |
ORPHA:58 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Aggressive behavior |
OMIM:610188 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Postnatal growth retardation, Abnormal thalamus morphology |
ORPHA:300570 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:617239 |
Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone... |
ORPHA:3455 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Apnea |
OMIM:261740 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia |
ORPHA:369929 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Hip dysplasia, Aspiration pneumonia, Dysphagia, ... |
ORPHA:438213 |
Acute Bilirubin Encephalopathy |
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Central apnea |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
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Central apnea |
ORPHA:529808 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Whipple Disease |
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Polydipsia, Anorexia |
ORPHA:3452 |
Hydranencephaly |
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Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... |
ORPHA:2177 |
Unilateral Polymicrogyria |
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Pseudobulbar paralysis, Apnea, Epistaxis |
ORPHA:268943 |
Apparent Mineralocorticoid Excess |
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Polydipsia |
ORPHA:320 |
Wolfram Syndrome |
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Central apnea, Polydipsia, Respiratory insufficiency |
ORPHA:3463 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Abnormality of the diencephalon, Short stature |
ORPHA:2720 |
Nephronophthisis 11 |
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Polydipsia |
OMIM:613550 |
Septo-Optic Dysplasia Spectrum |
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Polydipsia |
ORPHA:3157 |
Wiedemann-Rautenstrauch Syndrome |
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Hypospadias, Small for gestational age, Short stature, Cryptorchidism, Long penis, Hypoplasia of ... |
OMIM:264090 |
Tuberous Sclerosis 1 |
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Precocious puberty, Adenoma sebaceum, Hypothyroidism |
OMIM:191100 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Precocious puberty, Cryptorchidism, Patent ductus arteriosus |
OMIM:616682 |
Senior-Loken Syndrome 1 |
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Polydipsia |
OMIM:266900 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Slender ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Slender ... |
ORPHA:363958 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Hyperpigmented streaks, Hypopigmented streaks, Apneic episodes in inf... |
OMIM:601803 |
Aceruloplasminemia |
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Diabetes mellitus, Abnormal pancreas morphology, Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
Japanese Encephalitis |
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Inappropriate antidiuretic hormone secretion, Focal T2 hyperintense thalamic lesion, Abnormal tha... |
ORPHA:79139 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Precocious puberty, Hypoparathyroidism, Patent ductus arteriosus, Obesity |
ORPHA:369837 |
Renal Hypoplasia |
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Polydipsia |
ORPHA:93101 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Polydipsia, Salt craving |
OMIM:612780 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Decreased thalamic volume |
ORPHA:370959 |
Sandhoff Disease, Infantile Form |
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Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Senior-Boichis Syndrome |
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Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Helix Syndrome |
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Polydipsia |
OMIM:617671 |
Leigh Syndrome |
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Growth delay, Intrauterine growth retardation, Failure to thrive, Abnormal thalamic MRI signal in... |
ORPHA:506 |
Neuroferritinopathy |
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T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
Hyperparathyroidism, Neonatal Severe |
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Polydipsia |
OMIM:239200 |
Pituitary Dermoid And Epidermoid Cysts |
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Polydipsia |
ORPHA:91351 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Precocious puberty, Cholelithiasis, Obesity |
OMIM:301066 |
Tuberous Sclerosis 2 |
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Precocious puberty, Adenoma sebaceum, Hypothyroidism |
OMIM:613254 |
Smith-Lemli-Opitz Syndrome |
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Bifid scrotum, Small scrotum, Hypospadias, Short stature, Septate vagina, Precocious puberty, Cry... |
OMIM:270400 |
Orofaciodigital Syndrome I |
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Pancreatic cysts, Ovarian cyst, Short stature, Hypothalamic hamartoma |
OMIM:311200 |
Early Infantile Epileptic Encephalopathy |
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Precocious puberty, Micropenis, Failure to thrive |
ORPHA:1934 |
Aicardi Syndrome |
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Precocious puberty, Postnatal growth retardation, Dilated third ventricle |
OMIM:304050 |
Gitelman Syndrome |
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Polydipsia, Salt craving |
OMIM:263800 |
Pseudoleprechaunism Syndrome, Patterson Type |
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Premature adrenarche, Intrauterine growth retardation, Diabetes mellitus, Increased circulating a... |
ORPHA:2976 |
Wolf-Hirschhorn Syndrome |
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Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryptorchidism, Growth... |
OMIM:194190 |
Orofaciodigital Syndrome Vi |
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Failure to thrive, Short stature, Hypothalamic hamartoma |
OMIM:277170 |
Neurofibromatosis Type 1 |
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Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Pheochrom... |
ORPHA:636 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Short stature, Precocious puberty, Growth delay, Macroorchidism, Failure to thrive |
OMIM:619950 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Williams Syndrome |
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Hypoplasia of penis, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Short stature, ... |
ORPHA:904 |
Oligomeganephronia |
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Polydipsia |
ORPHA:2260 |
Floating-Harbor Syndrome |
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Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryptorchidism, Growth... |
ORPHA:2044 |
Congenital Disorder Of Deglycosylation 2 |
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Hypothalamic hamartoma |
OMIM:619775 |
Toxic Epidermal Necrolysis |
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Polydipsia, Dysphagia |
ORPHA:537 |
Acute Disseminated Encephalomyelitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Tolchin-Le Caignec Syndrome |
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Precocious puberty |
OMIM:618971 |
Aicardi Syndrome |
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Precocious puberty, Delayed puberty |
ORPHA:50 |
Hypomagnesemia 3, Renal |
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Polydipsia |
OMIM:248250 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Postnatal growth retardation, Short stature, Decreased thalamic volume |
ORPHA:168577 |
Erdheim-Chester Disease |
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Polydipsia |
ORPHA:35687 |
Infantile Nephropathic Cystinosis |
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Polydipsia |
ORPHA:411629 |
Brain-Lung-Thyroid Syndrome |
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Hyperactivity, Abnormal drinking behavior, Compulsive behaviors, Abnormal eating behavior |
ORPHA:209905 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Hypermobile Ehlers-Danlos Syndrome |
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Apnea, Hip dislocation |
ORPHA:285 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia |
ORPHA:293987 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Fusion of the left and right thalami |
OMIM:619306 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Polydipsia, Dysphagia |
ORPHA:99880 |
Parathyroid Carcinoma |
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Polydipsia, Dysphagia |
ORPHA:143 |
Sponastrime Dysplasia |
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Rhizomelia, Hypospadias, Small for gestational age, Precocious puberty, Disproportionate short-li... |
ORPHA:93357 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Polydipsia |
ORPHA:93111 |
Distal Renal Tubular Acidosis |
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Polydipsia |
ORPHA:18 |
Arima Syndrome |
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Polydipsia |
OMIM:243910 |
Juvenile Nephropathic Cystinosis |
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Polydipsia |
ORPHA:411634 |
Cystinosis, Nephropathic |
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Polydipsia, Dysphagia, Oral-pharyngeal dysphagia |
OMIM:219800 |
Gitelman Syndrome |
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Polydipsia, Salt craving |
ORPHA:358 |
Holoprosencephaly 7 |
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Fusion of the left and right thalami, Panhypopituitarism |
OMIM:610828 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thalamic hemorrhage |
ORPHA:464321 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
17Q11 Microdeletion Syndrome |
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Short stature, Precocious puberty, Glomus jugular tumor, Elevated circulating parathyroid hormone... |
ORPHA:97685 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Proximal Renal Tubular Acidosis |
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Polydipsia |
ORPHA:47159 |
Autosomal Recessive Polycystic Kidney Disease |
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Polydipsia |
ORPHA:731 |
Bickerstaff Brainstem Encephalitis |
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Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Neuroblastoma |
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ORPHA:635 |