Lethal Congenital Contracture Syndrome 2 (LCCS2)

Alias:

Lccs2

Multiple Contracture Syndrome, Israeli-Bedouin Type

Lethal Congenital Contracture Syndrome Type 2

Lethal Congenital Contractural Syndrome 2

Multiple Contracture Syndrome, Israeli Bedouin Type a

Israeli Bedouin Multiple Contracture Syndrome Type a

Contracture Syndrome, Lethal, Congenital, Type 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lethal Congenital Contracture Syndrome 2, also known as lccs2, is related to lethal congenital contracture syndrome 3 and myasthenic syndrome, congenital, 4b, fast-channel. An important gene associated with Lethal Congenital Contracture Syndrome 2 is ERBB3 (Erb-B2 Receptor Tyrosine Kinase 3). Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are dilated cardiomyopathy and ventricular septal defect

Related ID：

MALACARDS：LTH008

OMIM：607598

MESH：C564369