syndroom van fosfodi-esterase-4D-haplo-insufficiëntie (aandoening)
syndroom van fosfodi-esterase-4D-haplo-insufficiëntie
PDE4D-haplo-insufficiëntiesyndroom
PDE4D haploinsufficiency syndrome
Phosphodiesterase 4D haploinsufficiency syndrome
PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability with characteristics of developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
