PDE4D haploinsufficiency syndrome

Orpha code: 439822OMIM code: 615668

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.

Disease data
Classification

Malformation syndrome

ORPHA code
439822
OMIM code
615668
ICD10 code
-
ICD11 code
-

No additional description.

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