604320.4.1

Lebanon

Equinovarus deformity; Progressive distal muscle weakness; Hypotonia; Peripheral axonal neuropathy; Respiratory distress;

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001164730.2:c.324+1_324+7delinsAC	2		Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
604320.4.2	Lebanon	;	Male			Father of 604320.4.1
604320.4.3	Lebanon	;	Female			Mother of 604320.4.1