216400.4.2

Sudan

Failure to thrive; Bird-like facies; Intellectual disability, moderate; Microcephaly; Cutaneous photosensitivity ;

Unknown

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000082.3:c.275+1G>A	2		Cockayne Syndrome, Type A

Cousin of 216400.4.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
216400.4.1	Sudan	Failure to thrive; Bird-like facies; Intellectual disability, moderate; Microcephaly; Cutaneous photosensitivity ;	Unknown	Yes	Yes