Lethal Congenital Contracture Syndrome 5 (LCCS5)

Lethal Congenital Contracture Syndrome 5(来自ICD-11)

别称:

Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome

Lccs5

Myopathy, Centronuclear, Lethal, Autosomal Recessive

Autosomal Recessive Lethal Centronuclear Myopathy

Contracture Syndrome, Lethal, Congenital, Type 5

Lethal Congenital Contracture Syndrome Type 5

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lethal Congenital Contracture Syndrome 5, is also known as fetal akinesia-cerebral and retinal hemorrhage syndrome. An important gene associated with Lethal Congenital Contracture Syndrome 5 is DNM2 (Dynamin 2). Affiliated tissues include skeletal muscle and bone marrow, and related phenotypes are hypotonia and respiratory insufficiency

查看原文参与反馈