Polyvalvular heart disease syndrome

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Name:
Polyvalvular heart disease syndrome
Description:
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay.
ORPHAcode:
228410
Synonyms:
PHD syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14