616449.2

Lebanon

Global developmental delay; Seizure; Ataxia; Hypotonia; Microcephaly

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_030973.4:c.518T>C	2		Basel-Vanagait-Smirin-Yosef Syndrome
NM_020247.5:c.1534C>T	2