Disease: Atypical hypotonia cystinuria syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4755274
Disease: Atypical hypotonia cystinuria syndrome
Atypical hypotonia cystinuria syndrome 		0.010 GeneticVariation disease BEFREE Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. 28726805 2018