Parents

Clinical Features
Changes in the B4GALT7 gene (“pathogenic variants”) may cause spondylodysplastic Ehlers-Danlos syndrome type 1 (EDSSPD1 B4GALT7-related ), a condition characterized by muscle weakness, soft doughy skin and overly flexible joints.
People who have this syndrome may also have skeletal issues, such as scoliosis and bowed limbs, and eye problems.

Prevalence
EDSSPD1 B4GALT7-related is very rare but its exact prevalence is currently unknown.

Inheritance
Changes (variants) in this gene are inherited in an autosomal recessive manner, meaning that if both parents carry a single variant in this gene, they will not display the disease, but their children will have a greater chance to inherit both variants and display the disease.