616354.1

Lebanon

Global developmental delay; Cerebellar atrophy; Macrocephaly; Delayed myelination; Dilation of lateral ventricles; Arachnoid cyst

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020468.5:c.57C>A	2		Spinocerebellar Ataxia, Autosomal Recessive 20
NM_153816.6:c.2175delC	2		Spinocerebellar Ataxia, Autosomal Recessive 20

Parents originate from the same village