Lethal Congenital Contracture Syndrome 10 (LCCS10)

Alias:

Nek9-Related Lethal Skeletal Dysplasia

Lccs10

Lethal Skeletal Dysplasia-Fetal Akinesia-Contractures-Thoracic Dysplasia-Pulmonary Hypoplasia Syndrome

Contraction, Lethal, Congenital Syndrome, Type 10

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lethal Congenital Contracture Syndrome 10, is also known as nek9-related lethal skeletal dysplasia. An important gene associated with Lethal Congenital Contracture Syndrome 10 is NEK9 (NIMA Related Kinase 9). Affiliated tissues include bone and skeletal muscle, and related phenotypes are short neck and talipes equinovarus

Related ID：

MALACARDS：LTH042

OMIM：617022

MESH：D001176