Abstract
2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features. RP2-associated retinal disorder (RP2-RD) is an X-linked inherited retinal disease with a childhood onset caused by a loss-of-function variant in the RP2 gene. Here, we describe a 14-year-old boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-RD. The recurrence risk of each condition and the indication for potential therapeutic options for RP2-RD are discussed.
Highlights
2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features
We describe a patient with mild intellectual disability (ID) and some dysmorphic features coupled with nonsyndromic retinitis pigmentosa (RP)
We first suspected a diagnosis of 2p15p16.1 microdeletion syndrome (OMIM #612513), which is a recently recognized congenital disorder characterized by ID, autism spectrum disorder (ASD), microcephaly, short stature, distinctive facial features, and structural brain anomalies[2,3,4,5]
Summary
Murakami1, 2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features. 2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features.
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