216550.9.2

Saudi Arabia

Male

Variant Name	Allele Count
NM_152564.5:c.1219C>T	1

Father of 216550.9.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Parental Consanguinity	Remarks
216550.9.1	Saudi Arabia	Intellectual disability; Global developmental delay; Hypotonia; Attention deficit hyperactivity disorder; Joint hypermobility; Unsteady gait; Carious teeth	Female	No	Proband from 'family 034' in the publication
216550.9.3	Saudi Arabia		Female		Mother of 216550.9.1