219800.7

Morocco

Renal Fanconi syndrome; Polyuria; Growth delay; Corneal crystals; Abnormality of the skeletal system; Delayed skeletal maturation

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004937.3:c.922G>A	1		Cystinosis, Nephropathic

Patient 'CY47' in the publication, 2nd mutation not identified