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GENATLAS PHENOTYPE

last update : 28-09-2021

Symbol	LDS5
Location	14q24.3
Name	Loeys-Dietz syndrome 5
Other name(s)	RIENHOFF syndrome
Corresponding gene	TGFB3
Main clinical features	syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture ther systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity
Genetic determination
Function/system disorder
Type	disease

Remark(s)