HEPHL1, hephaestin like 1, 341208

N. diseases: 21; N. variants: 0
Disease: Impaired cognition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 GeneticVariation disease BEFREE Here we report a child with compound heterozygous mutations in HEPHL1 (NM_001098672) who presented with abnormal hair (pili torti and trichorrhexis nodosa) and cognitive dysfunction. 31125343 2019