604320.1

Lebanon

Respiratory distress; Diaphragmatic eventration; Progressive distal muscular atrophy; Paralysis

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002180.2:c.638A>G	2		Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Four siblings died of respiratory failure. Parents and two other siblings healthy.