604320.3

Saudi Arabia

Dyspnea; Dysphagia; Muscle weakness; Scoliosis; Absent patellar reflexes; Diaphragmatic eventration; Progressive spinal muscular atrophy ;

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002180.2:c.958C>T	2		Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

No parental testing