RSPRY1

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Description

The RSPRY1 (ring finger and SPRY domain containing 1) is a protein-coding gene located on chromosome 16.

RSPRY1 is also known as SEMDFA.

Associated Diseases

• Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
• Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome