278700.1

United Arab Emirates

Specific learning disability; Delayed speech and language development; Ataxia; Abnormality of skin pigmentation; Developmental regression

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000380.3:c.323G>A	2		Xeroderma Pigmentosum, Complementation Group A

Similarly affected sister