OnlineIMD
Phosphatidylinositol-4,5-bisphosphate phospholipase C delta 1 deficiency
Synonym(s)
Nonsyndromic congenital nail disorder type 3
,
leukonychia totalis and/or partialis
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
PLCD1
/ Phospholipase C Delta 1
3p22.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Phospholipase C delta-1
Disease group(s)
14.5.2 Disorders of phosphatidylinositol metabolism