607088.1.1

Lebanon

Progressive distal muscle weakness; Distal upper limb amyotrophy; Distal lower limb amyotrophy; Hyperreflexia; Motor polyneuropathy; ;

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003384.3:c.656G>T	1		Spinal Muscular Atrophy, Distal, Autosomal Recessive
NM_003384.3:c.761G>T	1		Spinal Muscular Atrophy, Distal, Autosomal Recessive

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
607088.1.2	Lebanon	Progressive distal muscle weakness; Distal upper limb amyotrophy; Distal lower limb amyotrophy; Hyperreflexia; Motor polyneuropathy; ;	Male	Yes	No	Sibling of 607088.1.1. Showed more severe phenotype than his affected sister