216550.6.2

Lebanon

Intellectual disability; Pigmentary retinopathy; Conductive hearing impairment; Brachydactyly

Female

Yes

Yes

Variant Name	Allele Count	Associated Disease
NM_152564.4:c.11251del	2	Cohen Syndrome

Sibling of 216550.6.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
216550.6.1	Lebanon	Intellectual disability; Pigmentary retinopathy; Conductive hearing impairment; Brachydactyly; Childhood-onset truncal obesity	Male	Yes	Yes
216550.6.3	Lebanon		Female			Mother of 216550.6.1
216550.6.4	Lebanon		Male			Father of 216550.6.1