Autosomal recessive congenital myasthenic syndrome

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

ORPHA:716903Etiological subtype

Also called Autosomal recessive CMS due to defective synaptic vesicles exocytosis

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal recessive
Classified as
Etiological subtype

Genes

LAMA5Disease-causing germline mutation(s)
RPH3ADisease-causing germline mutation(s)
SNAP25Disease-causing germline mutation(s)
SYT2Disease-causing germline mutation(s) (loss of function)
UNC13ADisease-causing germline mutation(s)
VAMP1Disease-causing germline mutation(s)

Cross-references

OMIM 616330OMIM 618323OMIM 619461OMIM 621455

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.

Get started freeSee how Eleplan works →