Phosphoserine Phosphatase Deficiency |
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Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
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, Postnatal growth retardation, Umbilical hernia, Severe ... |
ORPHA:231144 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
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Postnatal growth retardation, Intrauterine growth retardation, Precocious puberty, Obesity |
ORPHA:254525 |
Combined Oxidative Phosphorylation Deficiency 17 |
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Postnatal growth retardation, Intrauterine growth retardation, Failure to thrive |
OMIM:615440 |
Cortisone Reductase Deficiency 2 |
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Obesity, Premature pubarche |
OMIM:614662 |
Microduplication Xp11.22P11.23 Syndrome |
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Precocious puberty, Obesity |
ORPHA:217377 |
Precocious Puberty, Male-Limited |
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Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
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Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Postnatal growth retardation, Intrauterine growth retardation, Precocious puberty, Obesity |
ORPHA:254531 |
Temple Syndrome |
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Short stature, Small for gestational age, Postnatal growth retardation, Precocious puberty, Crypt... |
ORPHA:254516 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
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Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature |
OMIM:618160 |
Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Short stature |
OMIM:615925 |
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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Short stature, Small for gestational age, Postnatal growth retardation, Precocious puberty, Crypt... |
ORPHA:96184 |
Precocious Puberty, Central, 1 |
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Short stature, Isosexual precocious puberty |
OMIM:176400 |
Insulin-Like Growth Factor I Deficiency |
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Osteopenia, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine grow... |
OMIM:608747 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
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Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Temple Syndrome |
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Short stature, Small for gestational age, Overweight, Precocious puberty, Cryptorchidism, Obesity... |
OMIM:616222 |
Fanconi Anemia, Complementation Group J |
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Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
Familial Peripheral Male-Limited Precocious Puberty |
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Precocious puberty, Long penis, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Adrenal Hypoplasia, Congenital |
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Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... |
OMIM:300200 |
46,Xy Sex Reversal 8 |
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Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Small for gestational age, Short stature, Precocious puberty, Long penis, Clitoral hypertrophy |
OMIM:262190 |
Silver-Russell Syndrome |
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Abnormality of male external genitalia, Short stature, Failure to thrive in infancy, Cachexia, Hy... |
ORPHA:813 |
Osteopetrosis, Autosomal Recessive 9 |
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Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ... |
OMIM:620366 |
Donohue Syndrome |
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Postnatal growth retardation, Precocious puberty, Long penis, Ovarian cyst, Severe failure to thr... |
OMIM:246200 |
Dystonia 28 |
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Precocious puberty, Short stature |
ORPHA:589618 |
Spastic Paraplegia-Precocious Puberty Syndrome |
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Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Malignant Migrating Focal Seizures Of Infancy |
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Precocious puberty, Failure to thrive |
ORPHA:293181 |
Optic Pathway Glioma |
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Growth delay, Precocious puberty |
ORPHA:2086 |
Inverted Duplicated Chromosome 15 Syndrome |
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Precocious puberty, Cryptorchidism, Growth delay, Gonadal dysgenesis, Hypogonadism |
ORPHA:3306 |
Fanconi Anemia, Complementation Group C |
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Small for gestational age, Short stature, Flexion contracture, Prolonged G2 phase of cell cycle, ... |
OMIM:227645 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Short stature, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous g... |
ORPHA:90795 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
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Precocious puberty, Decreased body weight |
OMIM:300958 |
Sim1-Related Prader-Willi-Like Syndrome |
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Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... |
ORPHA:398079 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Precocious puberty, Cryptorchidism, Failure to thrive |
OMIM:614736 |
Fanconi Anemia, Complementation Group E |
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Small for gestational age, Short stature, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Septopreoptic Holoprosencephaly |
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Precocious puberty, Ethmoidal encephalocele |
ORPHA:280195 |
Fanconi Anemia, Complementation Group A |
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Small for gestational age, Short stature, Prolonged G2 phase of cell cycle |
OMIM:227650 |
19P13.3 Microduplication Syndrome |
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Growth delay, Intrauterine growth retardation, Precocious puberty, Unilateral cryptorchidism |
ORPHA:447980 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Small scrotum, Small for gestational age, Short stature, External genital hypoplasia, Hypogonadot... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Small scrotum, Small for gestational age, Short stature, External genital hypoplasia, Hypogonadot... |
ORPHA:98793 |
Kleefstra Syndrome Due To A Point Mutation |
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Short stature, Large for gestational age, Precocious puberty, Umbilical hernia, Failure to thrive |
ORPHA:261652 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Small scrotum, Small for gestational age, Short stature, External genital hypoplasia, Hypogonadot... |
ORPHA:177904 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
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Precocious puberty |
ORPHA:457260 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Small scrotum, Small for gestational age, Short stature, External genital hypoplasia, Hypogonadot... |
ORPHA:177901 |
Magel2-Related Prader-Willi-Like Syndrome |
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Small scrotum, Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hy... |
ORPHA:398069 |
Woolly Hair Nevus |
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Precocious puberty |
ORPHA:79414 |
Slc35A2-Cdg |
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Precocious puberty, Intrauterine growth retardation, Short stature, Failure to thrive in infancy |
ORPHA:356961 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri... |
OMIM:201810 |
19P13.12 Microdeletion Syndrome |
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Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Intrauterine growth retardation |
ORPHA:254346 |
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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Small for gestational age, Hypospadias, Postnatal growth retardation, Precocious puberty, Cryptor... |
ORPHA:96182 |
Smith-Magenis Syndrome |
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Short stature, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty |
ORPHA:819 |
Prader-Willi Syndrome |
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Small scrotum, Short stature, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Extern... |
OMIM:176270 |
Prader-Willi Syndrome |
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Small scrotum, Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hy... |
ORPHA:739 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
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Precocious puberty |
OMIM:300801 |
Dentici-Novelli Neurodevelopmental Syndrome |
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Precocious puberty |
OMIM:619877 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Precocious puberty |
OMIM:619356 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Hypospadias, Postnatal growth retardation, Precocious puberty, Disproportionate short stature, Tr... |
OMIM:210720 |
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, Short stature, Prolonged G2 phase of cell cycle |
OMIM:227646 |
Carpenter Syndrome 1 |
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Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity, Umbilica... |
OMIM:201000 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
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Precocious puberty |
ORPHA:91354 |
9P13 Microdeletion Syndrome |
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Precocious puberty, Umbilical hernia, Short stature, External genital hypoplasia |
ORPHA:324313 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
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Abnormality of female external genitalia, Precocious puberty, Disproportionate short stature, Tru... |
ORPHA:2637 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Ambiguous genitalia, female, Long ... |
OMIM:202010 |
Familial Glucocorticoid Deficiency |
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Precocious puberty, Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Azoospermia, Leyd... |
ORPHA:361 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia |
OMIM:620073 |
Myhre Syndrome |
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Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc... |
ORPHA:2588 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Growth delay, Precocious puberty, Short stature |
OMIM:163200 |
Basilicata-Akhtar Syndrome |
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Precocious puberty |
OMIM:301032 |
Radio-Tartaglia Syndrome |
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Precocious puberty, Obesity |
OMIM:619312 |
Peripheral Primitive Neuroectodermal Tumor |
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Precocious puberty, Ovarian neoplasm, Weight loss, Neoplasm of the scrotum, Uterine neoplasm |
ORPHA:370348 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Postnatal growth retardation, Precocious puberty, Labial hypertrophy, Cryptorchidism, Umbilical h... |
ORPHA:96191 |
Bainbridge-Ropers Syndrome |
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Precocious puberty, Cryptorchidism, Growth delay, Intrauterine growth retardation, Failure to thrive |
OMIM:615485 |
Rabson-Mendenhall Syndrome |
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Enlarged ovaries, Short stature, Precocious puberty, Long penis, Severe postnatal growth retardat... |
ORPHA:769 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Growth delay, Precocious puberty, Obesity, Proportionate short stature |
OMIM:619269 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Precocious puberty, Obesity |
ORPHA:163681 |
Pallister-Hall Syndrome |
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Short stature, Precocious puberty, Cryptorchidism, Neonatal death, Intrauterine growth retardatio... |
OMIM:146510 |
Mccune-Albright Syndrome |
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Precocious puberty |
OMIM:174800 |
Kabuki Syndrome |
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Hypoplasia of penis, Short stature, Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Fai... |
ORPHA:2322 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Precocious puberty, Rhizomelia, Hypospadias |
OMIM:615877 |
Phakomatosis Pigmentokeratotica |
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Precocious puberty, Cryptorchidism, Spina bifida |
ORPHA:2874 |
Smith-Lemli-Opitz Syndrome |
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Bifid scrotum, Small scrotum, Short stature, Hypospadias, Septate vagina, Precocious puberty, Cry... |
OMIM:270400 |
8P Inverted Duplication/Deletion Syndrome |
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Precocious puberty, Cryptorchidism, Micropenis |
ORPHA:96092 |
Wolf-Hirschhorn Syndrome |
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Short stature, Small for gestational age, Hypospadias, Precocious puberty, Cryptorchidism, Growth... |
OMIM:194190 |
Generalized Glucocorticoid Resistance Syndrome |
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Precocious puberty, Ambiguous genitalia, Oligozoospermia, Female pseudohermaphroditism |
ORPHA:786 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hypospadias, Small for gestational age, Testicular neoplasm, Spina bifida, Postnatal growth retar... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hypospadias, Small for gestational age, Testicular neoplasm, Spina bifida, Postnatal growth retar... |
ORPHA:363958 |
Mccune-Albright Syndrome |
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Hyperplasia of the Leydig cells, Precocious puberty, Ovarian cyst, Macroorchidism, Abnormal testi... |
ORPHA:562 |
Alexander Disease |
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Precocious puberty, Failure to thrive |
ORPHA:58 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Precocious puberty, Umbilical hernia, Obesity |
OMIM:301066 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
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Precocious puberty, Rectovaginal fistula |
OMIM:608980 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Precocious puberty, Obesity |
ORPHA:369837 |
Aicardi Syndrome |
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Postnatal growth retardation, Precocious puberty, Spina bifida |
OMIM:304050 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Short stature, Precocious puberty, Growth delay, Macroorchidism, Failure to thrive |
OMIM:619950 |
Early Infantile Epileptic Encephalopathy |
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Precocious puberty, Umbilical hernia, Micropenis, Failure to thrive |
ORPHA:1934 |
Tay-Sachs Disease |
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Precocious puberty |
ORPHA:845 |
Pallister-Hall Syndrome |
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Small scrotum, Short stature, Hypospadias, Large for gestational age, Precocious puberty, Cryptor... |
ORPHA:672 |
Aicardi Syndrome |
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Precocious puberty, Delayed puberty |
ORPHA:50 |
Floating-Harbor Syndrome |
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Short stature, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Growth... |
ORPHA:2044 |
Sponastrime Dysplasia |
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Small for gestational age, Rhizomelia, Hypospadias, Precocious puberty, Disproportionate short-li... |
ORPHA:93357 |
Carney Complex |
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Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Increased b... |
ORPHA:1359 |
Tolchin-Le Caignec Syndrome |
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Precocious puberty, Umbilical hernia |
OMIM:618971 |
Neurofibromatosis Type 1 |
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Precocious puberty, Cryptorchidism, Short stature, Delayed puberty |
ORPHA:636 |
Tuberous Sclerosis 1 |
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Precocious puberty |
OMIM:191100 |
Williams Syndrome |
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Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Failure to thrive in infancy, ... |
ORPHA:904 |
Tuberous Sclerosis 2 |
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Precocious puberty |
OMIM:613254 |
17Q11 Microdeletion Syndrome |
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Precocious puberty, Intrauterine growth retardation, Short stature, Delayed puberty |
ORPHA:97685 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Precocious puberty, Cryptorchidism, Uterine prolapse, Short stature |
ORPHA:438213 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Precocious puberty, Cryptorchidism |
OMIM:616682 |