219100.3.2

Lebanon

Redundant skin; Abnormal facial shape

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000501.4:c.631C>T	2		Cutis Laxa, Autosomal Recessive, Type IA

First cousin of 219100.3.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
219100.3.1	Lebanon	Redundant skin; Abnormal facial shape	Male	Yes	Yes