Clinical features
Mutations in RSPRY1 cause a clinically recognizable autosomal-recessive disorder characterized by progressive spondyloepimetaphyseal dysplasia, microcephaly, short stature, facial dysmorphism, scoliosis, short fourth metatarsals, and intellectual disability.
Prevalence
The prevalence of RSPRY1-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
RSPRY1-related infantile encephalopathy is inherited in an autosomal recessive manner.