216550.6.1

Lebanon

Intellectual disability; Pigmentary retinopathy; Conductive hearing impairment; Brachydactyly; Childhood-onset truncal obesity

Male

Yes

Yes

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

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
216550.6.2	Lebanon	Intellectual disability; Pigmentary retinopathy; Conductive hearing impairment; Brachydactyly	Female	Yes	Yes	Sibling of 216550.6.1
216550.6.3	Lebanon		Female			Mother of 216550.6.1
216550.6.4	Lebanon		Male			Father of 216550.6.1