218340.20.1

Saudi Arabia

Intellectual disability; Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Unilateral renal atrophy

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_138425.4:c.53-2A>G	2		Temtamy Syndrome

Proband from 'family 024' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
218340.20.2	Saudi Arabia		Male			Father of 218340.20.1
218340.20.3	Saudi Arabia		Female			Mother of 218340.20.1