PDE4D haploinsufficiency syndrome

Disease Export to PDF
Name:
PDE4D haploinsufficiency syndrome
Description:
PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
ORPHAcode:
439822
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14