Синдром інтелектуальної недостатності-дисморфізму обличчя внаслідок гаплонедостатності SETD5
ORPHA:404440· OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Визначення(English summary)
A rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.