309000.1.1

Lebanon

Intellectual disability; Developmental cataract; Renal Fanconi syndrome;

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000276.3:c.1672G>T	1		Lowe Oculocerebrorenal Syndrome

Similarly affected brother not genotyped

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
309000.1.2	Lebanon		Female		No	Sister of 309000.1.1
309000.1.3	Lebanon		Female		No	Mother of 309000.1.1