Hao-Fountain Syndrome (HAFOUS)

Hao-Fountain Syndrome (HAFOUS)

OMIM number: 616863

Comments closing date: 08/01/2025

Hao-Fountain syndrome is a genetic condition
caused by a difference in a single gene. If an
individual carries one copy of this gene they are
affected with Hao-Fountain Syndrome. The
symptoms and signs include poor muscle tone and
delay in achieving milestones such as standing
and walking. There is also the potential for speech
delay and problems with coordination. The issue
with Hao-fountain syndrome is that the severity of
the clinical symptoms is very variable. Additionally,
individuals who are affected can also be affected
with congenital anomalies including eye
anomalies, feeding difficulties, atrial septal defects
and other congenital heart defects and brain
abnormalities.

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