615286.G.2

Saudi Arabia

Intellectual disability; Esotropia; Failure to thrive

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_138422.4:c.430G>A	48		Mental Retardation, Autosomal Recessive 36

24 patients (12 males; 12 females) from 8 families.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615286.G.1	Saudi Arabia	Intellectual disability; Abnormal facial shape				14 patients (7 males; 7 females) from 11 unrelated families.