Lethal Congenital Contracture Syndrome 3 (LCCS3)

Alias:

Lethal Congenital Contractural Syndrome 3

Lccs3

Multiple Contracture Syndrome, Israeli Bedouin Type B

Multiple Contractural Syndrome Israeli Bedouin Type B

Israeli Bedouin Type B Multiple Contracture Syndrome

Contracture Syndrome, Lethal, Congenital, Type 3

Lethal Congenital Contracture Syndrome Type 3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lethal Congenital Contracture Syndrome 3, also known as lethal congenital contractural syndrome 3, is related to lethal congenital contracture syndrome and lethal congenital contracture syndrome 2. An important gene associated with Lethal Congenital Contracture Syndrome 3 is PIP5K1C (Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma). Affiliated tissues include skeletal muscle and bone, and related phenotypes are respiratory insufficiency and skeletal muscle atrophy

Related ID：

MALACARDS：LTH047

OMIM：611369

MESH：D001176