TKFC, triokinase and FMN cyclase, 26007

N. diseases: 8; N. variants: 0
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. 32004446 2020