SLC3A1, solute carrier family 3 member 1, 6519

N. diseases: 84; N. variants: 54
Disease: Floppy infant syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.010 GeneticVariation disease BEFREE With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria. 22766003 2012