614609.1

Lebanon

Submucous cleft hard palate; Bifid uvula; Ataxia; Hypotonia; Global developmental delay; Omphalocele; Encephalocele

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001128849.2:c.3506A>G	1		Coffin-Siris Syndrome 4