309000.3

United Arab Emirates

Developmental cataract; Abnormality of eye movement; Hypotonia; Global developmental delay; Failure to thrive; Dysphagia; Nephrocalcinosis

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000276.3:c.1498C>G	1		Lowe Oculocerebrorenal Syndrome

Similarly affected brothers