PDE4D haploinsufficiency syndrome

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PDE4D haploinsufficiency syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023

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PDE4D haploinsufficiency syndrome?

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