Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects (JDSCD)

Alias:

Jdscd

Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, with or Without Congenital Heart Defects

Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism Without Congenital Heart Defects

Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Larsen Syndrome, Autosomal Recessive, Formerly

Autosomal Recessive Larsen Syndrome

Larsen-Like Syndrome, B3gat3 Type

Larsen-Like Syndrome B3gat3 Type

Larsen Syndrome, Recessive Type

Larsen-Like Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects, also known as jdscd, is related to larsen-like syndrome b3gat3 type and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects is B3GAT3 (Beta-1,3-Glucuronyltransferase 3), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Diseases of glycosylation. Affiliated tissues include heart and skin, and related phenotypes are delayed skeletal maturation and inguinal hernia

Related ID：

MALACARDS：MLT162

OMIM：245600

MESH：D000015