216400.6

Lebanon

Failure to thrive; Bird-like facies; Intellectual disability, severe; Microcephaly; Cataract; Hearing impairment; Cutaneous photosensitivity ;

Unknown

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000082.3:c.173+1046A>G	2		Cockayne Syndrome, Type A