Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age (SDJLABA)

Alias:

Sdjlaba

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age, is also known as sdjlaba. An important gene associated with Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age is CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1). Affiliated tissues include bone, and related phenotypes are scoliosis and hypotonia

Related ID：

MALACARDS：SKL033

OMIM：618870

MESH：D001848