Oculo-cerebro-renal Lowe syndrome
OMIM:309000Mode of inheritance:X-linked recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | OCRL1 |
|---|---|
| Reference transcript | NM_000276.3 |
| DNA Change | c.776T>C |
| A.A. Change | p.Phe259Ser |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Chabaa L, Monnier N, Dahri S, Jorio M, Lunardi J, Chabraoui L.[Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient]. Ann Biol Clin (Paris). 2006 Jan-Feb;64(1):53-9. |