601596.1

Saudi Arabia

Hypotonia; Muscle weakness; Scoliosis; Demyelinating sensory neuropathy; Demyelinating motor neuropathy

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024577.4:c.2238dup	2		Charcot-Marie-Tooth Disease, Demyelinating,Type 4C