Hypotonia-cystinuria syndrome
OMIM:606407Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the genitourinary system
Mutations
| Gene Symbol | SLC3A1 |
|---|---|
| DNA Change | 77.4kb deletion  |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | deletion |
| Reference | Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW.Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. J Med Genet. 2008 May;45(5):314-8. |
Variant not named according to HGVS recommendations