TKFC, triokinase and FMN cyclase, 26007

N. diseases: 8; N. variants: 0
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. 32004446 2020