Phosphoserine Phosphatase Deficiency |
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Intrauterine growth retardation, Postnatal growth retardation |
OMIM:614023 |
Polyendocrine-Polyneuropathy Syndrome |
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Short stature, Hypogonadism, Postnatal growth retardation |
OMIM:616113 |
Precocious Puberty, Central, 2 |
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Premature thelarche, Premature pubarche |
OMIM:615346 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
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Short stature, Small for gestational age, Failure to thrive, Severe intrauterine growth retardati... |
ORPHA:231144 |
Combined Oxidative Phosphorylation Deficiency 17 |
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Failure to thrive, Intrauterine growth retardation, Postnatal growth retardation |
OMIM:615440 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
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Precocious puberty, Obesity, Intrauterine growth retardation, Postnatal growth retardation |
ORPHA:254525 |
Cortisone Reductase Deficiency 2 |
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Obesity, Premature pubarche |
OMIM:614662 |
Precocious Puberty, Male-Limited |
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Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Central Precocious Puberty |
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Isosexual precocious puberty, Premature thelarche, Obesity, Proportionate short stature, Increase... |
ORPHA:759 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Intrauterine growth retardation, Postnatal growth retardation |
OMIM:600546 |
Microduplication Xp11.22P11.23 Syndrome |
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Precocious puberty, Obesity |
ORPHA:217377 |
Temple Syndrome |
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Precocious puberty, Short stature, Small for gestational age, Cryptorchidism, Obesity, Postnatal ... |
ORPHA:254516 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Precocious puberty, Obesity, Intrauterine growth retardation, Postnatal growth retardation |
ORPHA:254531 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
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Postnatal growth retardation, Abdominal obesity, Short stature, Truncal obesity |
OMIM:618160 |
Testicular Regression Syndrome |
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Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
Growth Hormone Deficiency, Isolated Partial |
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Short stature, Postnatal growth retardation |
OMIM:615925 |
Insulin-Like Growth Factor I Deficiency |
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Decreased body weight, Short stature, Osteopenia, Intrauterine growth retardation, Postnatal grow... |
OMIM:608747 |
Cortisone Reductase Deficiency 1 |
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Precocious puberty, Obesity |
OMIM:604931 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Precocious puberty, Short stature, Small for gestational age, Truncal obesity, Cryptorchidism, Ob... |
ORPHA:96184 |
Precocious Puberty, Central, 1 |
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Isosexual precocious puberty, Short stature |
OMIM:176400 |
Temple Syndrome |
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Precocious puberty, Short stature, Small for gestational age, Decreased testicular size, Overweig... |
OMIM:616222 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
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Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Fanconi Anemia, Complementation Group J |
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Intrauterine growth retardation, Postnatal growth retardation |
OMIM:609054 |
Familial Male-Limited Precocious Puberty |
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Macroorchidism, Oligospermia, Precocious puberty, Long penis |
ORPHA:3000 |
46,Xy Complete Gonadal Dysgenesis |
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Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
46,Xy Sex Reversal 8 |
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Ambiguous genitalia, Male pseudohermaphroditism, Sex reversal, Cryptorchidism |
OMIM:614279 |
Adrenal Hypoplasia, Congenital |
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Precocious puberty, Azoospermia, Failure to thrive, Oligospermia, Delayed puberty, Cryptorchidism... |
OMIM:300200 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Precocious puberty, Short stature, Small for gestational age, Long penis, Clitoral hypertrophy |
OMIM:262190 |
Silver-Russell Syndrome |
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Precocious puberty, Short stature, Decreased testicular size, Cachexia, Hypospadias, Cryptorchidi... |
ORPHA:813 |
Spastic Paraplegia-Precocious Puberty Syndrome |
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Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Donohue Syndrome |
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Precocious puberty, Long penis, Severe failure to thrive, Ovarian cyst, Intrauterine growth retar... |
OMIM:246200 |
Dystonia 28 |
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Precocious puberty, Short stature |
ORPHA:589618 |
Optic Pathway Glioma |
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Precocious puberty, Growth delay |
ORPHA:2086 |
Fanconi Anemia, Complementation Group C |
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Flexion contracture, Short stature, Small for gestational age, Prolonged G2 phase of cell cycle, ... |
OMIM:227645 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambig... |
ORPHA:90795 |
Inverted Duplicated Chromosome 15 Syndrome |
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Precocious puberty, Hypogonadism, Growth delay, Gonadal dysgenesis, Cryptorchidism |
ORPHA:3306 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Precocious puberty, Decreased body weight |
OMIM:300958 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Failure to thrive, Precocious puberty, Cryptorchidism |
OMIM:614736 |
Sim1-Related Prader-Willi-Like Syndrome |
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Small scrotum, Precocious puberty, Hypogonadism, External genital hypoplasia, Decreased testicula... |
ORPHA:398079 |
Fanconi Anemia, Complementation Group E |
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Small for gestational age, Prolonged G2 phase of cell cycle, Short stature |
OMIM:600901 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Precocious puberty, Short stature, Small for gestational age, External genital hypoplasia, Decrea... |
ORPHA:98754 |
Septopreoptic Holoprosencephaly |
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Ethmoidal encephalocele, Precocious puberty |
ORPHA:280195 |
Fanconi Anemia, Complementation Group A |
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Small for gestational age, Prolonged G2 phase of cell cycle, Short stature |
OMIM:227650 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Precocious puberty, Short stature, Small for gestational age, External genital hypoplasia, Decrea... |
ORPHA:98793 |
19P13.3 Microduplication Syndrome |
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Growth delay, Unilateral cryptorchidism, Precocious puberty, Intrauterine growth retardation |
ORPHA:447980 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Precocious puberty, Short stature, Small for gestational age, External genital hypoplasia, Decrea... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Precocious puberty, Short stature, Small for gestational age, External genital hypoplasia, Decrea... |
ORPHA:177901 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Precocious puberty |
ORPHA:457260 |
Magel2-Related Prader-Willi-Like Syndrome |
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Small scrotum, Precocious puberty, Hypogonadism, Short stature, External genital hypoplasia, Decr... |
ORPHA:398069 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Absent scrotum, Ambiguous genitalia, Scrotal hypospadias, Perineal hypospadias, Bifid scrotum, Mi... |
OMIM:201810 |
Woolly Hair Nevus |
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Precocious puberty |
ORPHA:79414 |
19P13.12 Microdeletion Syndrome |
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Precocious puberty, Hypospadias, Cryptorchidism, Obesity, Intrauterine growth retardation |
ORPHA:254346 |
Slc35A2-Cdg |
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Precocious puberty, Failure to thrive in infancy, Intrauterine growth retardation, Short stature |
ORPHA:356961 |
Prader-Willi-Like Syndrome |
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Precocious puberty, Short stature, Small for gestational age, External genital hypoplasia, Decrea... |
ORPHA:398073 |
Kleefstra Syndrome Due To A Point Mutation |
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Precocious puberty, Short stature, Large for gestational age, Failure to thrive, Umbilical hernia |
ORPHA:261652 |
Ollier Disease |
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Precocious puberty |
ORPHA:296 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Precocious puberty, Small for gestational age, Severe intrauterine growth retardation, Failure to... |
ORPHA:96182 |
Prader-Willi Syndrome |
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Small scrotum, Precocious puberty, Hypogonadism, Short stature, External genital hypoplasia, Decr... |
ORPHA:739 |
Dentici-Novelli Neurodevelopmental Syndrome |
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Precocious puberty |
OMIM:619877 |
Smith-Magenis Syndrome |
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Precocious puberty, Short stature, Delayed puberty, Obesity, Failure to thrive in infancy |
ORPHA:819 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
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Precocious puberty |
OMIM:300801 |
Prader-Willi Syndrome |
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Small scrotum, Precocious puberty, Short stature, External genital hypoplasia, Hypoplastic labia ... |
OMIM:176270 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Precocious puberty, Disproportionate short stature, Hypospadias, Truncal obesity, Intrauterine gr... |
OMIM:210720 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Precocious puberty |
OMIM:619356 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
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Precocious puberty, Abnormal testis morphology, Polycystic ovaries, Testicular neoplasm, Obesity,... |
ORPHA:457059 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
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Precocious puberty, Cryptorchidism |
OMIM:619243 |
Fanconi Anemia, Complementation Group D2 |
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Small for gestational age, Prolonged G2 phase of cell cycle, Short stature |
OMIM:227646 |
Carpenter Syndrome 1 |
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Precocious puberty, Short stature, External genital hypoplasia, Spina bifida occulta, Cryptorchid... |
OMIM:201000 |
Familial Glucocorticoid Deficiency |
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Leydig cell neoplasia, Precocious puberty, Weight loss, Testicular adrenal rest tumor, Azoospermi... |
ORPHA:361 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Short stature, ... |
OMIM:202010 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Precocious puberty, Abnormality of female external genitalia, Disproportionate short stature, Tru... |
ORPHA:2637 |
9P13 Microdeletion Syndrome |
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External genital hypoplasia, Umbilical hernia, Precocious puberty, Short stature |
ORPHA:324313 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Precocious puberty, Micropenis, Labial hypoplasia, Cryptorchidism |
OMIM:620073 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
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Precocious puberty |
ORPHA:91354 |
Myhre Syndrome |
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Precocious puberty, Hypogonadism, External genital hypoplasia, Epispadias, Severe short stature, ... |
ORPHA:2588 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Precocious puberty, Growth delay, Short stature |
OMIM:163200 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Precocious puberty, Labial hypertrophy, Cryptorchidism, Umbilical hernia, Intrauterine growth ret... |
ORPHA:96191 |
Radio-Tartaglia Syndrome |
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Precocious puberty, Obesity |
OMIM:619312 |
Peripheral Primitive Neuroectodermal Tumor |
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Precocious puberty, Weight loss, Neoplasm of the scrotum, Uterine neoplasm, Ovarian neoplasm |
ORPHA:370348 |
Bainbridge-Ropers Syndrome |
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Precocious puberty, Failure to thrive, Growth delay, Cryptorchidism, Intrauterine growth retardation |
OMIM:615485 |
Basilicata-Akhtar Syndrome |
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Precocious puberty |
OMIM:301032 |
Rabson-Mendenhall Syndrome |
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Precocious puberty, Short stature, Long penis, Severe postnatal growth retardation, Enlarged ovar... |
ORPHA:769 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Precocious puberty, Proportionate short stature, Obesity, Growth delay |
OMIM:619269 |
Pallister-Hall Syndrome |
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Precocious puberty, Short stature, Decreased testicular size, Intrauterine growth retardation, Cr... |
OMIM:146510 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Precocious puberty, Obesity |
ORPHA:163681 |
Mccune-Albright Syndrome |
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Precocious puberty |
OMIM:174800 |
Kabuki Syndrome |
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Precocious puberty, Short stature, Hypoplasia of penis, Failure to thrive, Hypospadias, Cryptorch... |
ORPHA:2322 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Hypospadias, Precocious puberty, Rhizomelia |
OMIM:615877 |
Phakomatosis Pigmentokeratotica |
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Spina bifida, Precocious puberty, Cryptorchidism |
ORPHA:2874 |
Smith-Lemli-Opitz Syndrome |
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Ambiguous genitalia, Precocious puberty, Short stature, Bifid scrotum, Bicornuate uterus, Intraut... |
OMIM:270400 |
8P Inverted Duplication/Deletion Syndrome |
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Precocious puberty, Micropenis, Cryptorchidism |
ORPHA:96092 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Short stature, Small for gestational age, Failure to thrive, Hypospadias, Apl... |
OMIM:194190 |
Mccune-Albright Syndrome |
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Macroorchidism, Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, ... |
ORPHA:562 |
Generalized Glucocorticoid Resistance Syndrome |
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Oligospermia, Ambiguous genitalia, Precocious puberty, Female pseudohermaphroditism |
ORPHA:786 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Precocious puberty, Small for gestational age, Spina bifida, Testicular neoplasm, Hypospadias, Cr... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Precocious puberty, Small for gestational age, Spina bifida, Testicular neoplasm, Hypospadias, Cr... |
ORPHA:363958 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Precocious puberty, Obesity, Umbilical hernia |
OMIM:301066 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
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Rectovaginal fistula, Precocious puberty |
OMIM:608980 |
Alexander Disease |
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Failure to thrive, Precocious puberty |
ORPHA:58 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Precocious puberty, Obesity |
ORPHA:369837 |
Aicardi Syndrome |
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Spina bifida, Precocious puberty, Postnatal growth retardation |
OMIM:304050 |
Hypophosphatemic Rickets |
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Disproportionate short stature, Failure to thrive, Precocious puberty |
ORPHA:437 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Macroorchidism, Precocious puberty, Short stature, Failure to thrive, Growth delay |
OMIM:619950 |
Early Infantile Epileptic Encephalopathy |
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Failure to thrive, Precocious puberty, Micropenis, Umbilical hernia |
ORPHA:1934 |
Tay-Sachs Disease |
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Precocious puberty |
ORPHA:845 |
Floating-Harbor Syndrome |
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Precocious puberty, Short stature, Small for gestational age, Congenital posterior urethral valve... |
ORPHA:2044 |
Pallister-Hall Syndrome |
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Ambiguous genitalia, Precocious puberty, Aplasia/Hypoplasia of the vagina, Short stature, Decreas... |
ORPHA:672 |
Aicardi Syndrome |
|
Delayed puberty, Precocious puberty |
ORPHA:50 |
Sponastrime Dysplasia |
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Precocious puberty, Rhizomelia, Small for gestational age, Hypospadias, Disproportionate short-li... |
ORPHA:93357 |
Carney Complex |
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Leydig cell neoplasia, Macroorchidism, Precocious puberty, Abnormal morphology of female internal... |
ORPHA:1359 |
Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Umbilical hernia |
OMIM:618971 |
Neurofibromatosis Type 1 |
|
Delayed puberty, Precocious puberty, Short stature, Cryptorchidism |
ORPHA:636 |
Tuberous Sclerosis 1 |
|
Precocious puberty |
OMIM:191100 |
Williams Syndrome |
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Precocious puberty, Short stature, Hypoplasia of penis, Spina bifida occulta, Polycystic ovaries,... |
ORPHA:904 |
Tuberous Sclerosis 2 |
|
Precocious puberty |
OMIM:613254 |
17Q11 Microdeletion Syndrome |
|
Delayed puberty, Precocious puberty, Intrauterine growth retardation, Short stature |
ORPHA:97685 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Precocious puberty, Short stature, Cryptorchidism |
ORPHA:438213 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Precocious puberty, Cryptorchidism |
OMIM:616682 |