FGF12, fibroblast growth factor 12, 2257

N. diseases: 95; N. variants: 20
Disease: Apnea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003578
Disease: Apnea
Apnea 		0.010 Biomarker phenotype BEFREE Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration. 28506426 2017