PDE4D haploinsufficiency syndrome
ORPHA:439822· ICD-10 Q87.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal