Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (SMDCRD)

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy, also known as spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, is related to cone-rod dystrophy 2 and spondyloepimetaphyseal dysplasia, strudwick type. An important gene associated with Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy is PCYT1A (Phosphate Cytidylyltransferase 1A, Choline), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and 3q29 copy number variation syndrome. Affiliated tissues include bone and eye, and related phenotypes are bowing of the long bones and visual impairment