Congenital myasthenic syndrome 3A

Definition

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.

Also known as CMS3A, congenital myasthenic syndrome type 3A — per MONDO

Also identified as

• DOID 0110666 per MONDO
• OMIM 616321 per MONDO
• UMLS C4225372 per MONDO