Schilbach-Rott Syndrome (SBRS)

Schilbach-Rott Syndrome(来自ICD-11)
别称:
Brss
Hypotelorism-Cleft Palate-Hypospadias Syndrome
Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias
Cleft Palate, Hypotelorism, and Hypospadias
Blepharofacioskeletal Syndrome
Brooke-Spiegler Syndrome
Sbrs
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Schilbach-Rott Syndrome, also known as brss, is related to brooke-spiegler syndrome and cylindromatosis, familial. An important gene associated with Schilbach-Rott Syndrome is PTCH1 (Patched 1). Affiliated tissues include heart and brain, and related phenotypes are short stature and intellectual disability, mild
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参考文献
MALACARDS
AD
Newborn
<1/1000000
1
21
6

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