Chromosome 5q12 deletion syndrome

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.

Also known as chromosome 5q12 deletion syndrome — per MONDO

Also identified as

• DOID 0060421 per MONDO
• OMIM 615668 per MONDO
• Orphanet 439822 per MONDO
• UMLS C3810282 per MONDO