219100.2.1

Lebanon

Redundant skin; Global developmental delay; Hoarse voice; Abnormal facial shape; Joint laxity

Female

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
NM_006329.3:c.901C>A	1		Cutis Laxa, Autosomal Recessive, Type IA

Homozygous mutation in ELN. Phenotype modified by mutation in FBN5

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
219100.2.2	Lebanon	Redundant skin; Abnormal facial shape	Male	Yes	Yes	Sibling of 219100.2.1
219100.2.3	Lebanon		Female			Mother of 219100.2.1
219100.2.4	Lebanon		Male			Father of 219100.2.1