Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
46,Xy Sex Reversal 9 |
|
Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia |
OMIM:616067 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Cortisone Reductase Deficiency 2 |
|
Premature pubarche |
OMIM:614662 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyotype |
OMIM:264300 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Male pseudohermaphroditis... |
OMIM:400044 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, Hypogonadotropic hypogonadism |
ORPHA:752 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty |
OMIM:604931 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Precocious Puberty, Central, 1 |
|
Isosexual precocious puberty |
OMIM:176400 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females |
OMIM:620311 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,... |
OMIM:250790 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri... |
OMIM:201810 |
Woolly Hair Nevus |
|
Precocious puberty |
ORPHA:79414 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty |
ORPHA:254525 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... |
ORPHA:90795 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty |
ORPHA:457260 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:300200 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism |
ORPHA:3306 |
Dystonia 28 |
|
Precocious puberty |
ORPHA:589618 |
Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism |
ORPHA:254516 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty |
ORPHA:254531 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty |
ORPHA:280195 |
Optic Pathway Glioma |
|
Precocious puberty |
ORPHA:2086 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty |
ORPHA:293181 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism |
OMIM:619243 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Long penis, Clitoral hypertrophy |
OMIM:262190 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty |
OMIM:619877 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty |
OMIM:300958 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Decreased testicular size |
OMIM:616222 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... |
ORPHA:398079 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty |
ORPHA:91354 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Cryptorchidism |
OMIM:614736 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia |
OMIM:620073 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Unilateral cryptorchidism |
ORPHA:447980 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty |
OMIM:301032 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Cryptorchidism |
ORPHA:96184 |
Donohue Syndrome |
|
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy |
OMIM:246200 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Hypospadias, Precocious puberty, Cryptorchidism, Abnormal... |
ORPHA:813 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... |
ORPHA:398069 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias |
ORPHA:254346 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... |
ORPHA:98754 |
Radio-Tartaglia Syndrome |
|
Precocious puberty |
OMIM:619312 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... |
ORPHA:739 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... |
ORPHA:98793 |
Mccune-Albright Syndrome |
|
Precocious puberty |
OMIM:174800 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... |
ORPHA:177901 |
Slc35A2-Cdg |
|
Precocious puberty |
ORPHA:356961 |
Smith-Magenis Syndrome |
|
Precocious puberty |
ORPHA:819 |
Carpenter Syndrome 1 |
|
Precocious puberty, Cryptorchidism, External genital hypoplasia |
OMIM:201000 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Ovarian neoplasm, Neoplasm of the scrotum, Uterine neoplasm |
ORPHA:370348 |
9P13 Microdeletion Syndrome |
|
Precocious puberty, External genital hypoplasia |
ORPHA:324313 |
Prader-Willi Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... |
OMIM:176270 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Azoospermia, Leydig cell neopl... |
ORPHA:361 |
Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty |
ORPHA:261652 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... |
ORPHA:2588 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Ambiguous genitalia, Oligozoospermia, Female pseudohermaphroditism |
ORPHA:786 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula |
OMIM:608980 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty |
OMIM:163200 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty |
ORPHA:163681 |
Bainbridge-Ropers Syndrome |
|
Precocious puberty, Cryptorchidism |
OMIM:615485 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Cryptorchidism, Micropenis |
ORPHA:96092 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Abnormality of female external genitalia |
ORPHA:2637 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty, Ovarian cyst, Macroorchidism, Abnormal testi... |
ORPHA:562 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism |
ORPHA:2874 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Enlarged ovaries, Long penis, Clitoral hypertrophy |
ORPHA:769 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Hypospadias |
OMIM:210720 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Hypospadias |
OMIM:615877 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Cryptorchidism, Hypospadias |
ORPHA:96182 |
Pallister-Hall Syndrome |
|
Precocious puberty, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:146510 |
Tay-Sachs Disease |
|
Precocious puberty |
ORPHA:845 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty |
ORPHA:369837 |
Alexander Disease |
|
Precocious puberty |
ORPHA:58 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Bi... |
OMIM:270400 |
Kabuki Syndrome |
|
Precocious puberty, Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:2322 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Cryptorchidism, Labial hypertrophy |
ORPHA:96191 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty |
OMIM:301066 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty |
OMIM:619269 |
Tuberous Sclerosis 1 |
|
Precocious puberty |
OMIM:191100 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Cryptorchidism, Hypospadias, Testicular neoplasm |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Testicular neoplasm |
ORPHA:363958 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism |
OMIM:619950 |
Aicardi Syndrome |
|
Precocious puberty |
ORPHA:50 |
Tuberous Sclerosis 2 |
|
Precocious puberty |
OMIM:613254 |
Aicardi Syndrome |
|
Precocious puberty |
OMIM:304050 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Micropenis |
ORPHA:1934 |
Tolchin-Le Caignec Syndrome |
|
Precocious puberty |
OMIM:618971 |
Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Testicular ... |
ORPHA:1359 |
Pallister-Hall Syndrome |
|
Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Hydrometrocolpos, Aplasia/Hypopla... |
ORPHA:672 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism |
OMIM:616682 |
Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele |
ORPHA:2044 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:194190 |
Neurofibromatosis Type 1 |
|
Precocious puberty, Cryptorchidism |
ORPHA:636 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Polycysti... |
ORPHA:904 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Cryptorchidism, Uterine prolapse |
ORPHA:438213 |
Sponastrime Dysplasia |
|
Precocious puberty, Hypospadias |
ORPHA:93357 |
17Q11 Microdeletion Syndrome |
|
Precocious puberty |
ORPHA:97685 |