Clinical features
Mutations in the GZF1 gene cause an autosomal recessive form of Larsen syndrome. The clinical features of the affected individuals typically include laxity or dislocation of large joints and severe myopia. Scoliosis, short stature, progressive hearing loss, retinal detachment, and glaucoma may also be present.
Prevalence
The prevalence of GZF1-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
GZF1-related Larsen syndrome is inherited in an autosomal recessive manner.