OnlineIMD
Phosphatidylinositol-3,5-bisphosphate 5-phosphatase deficiency
Type
Disease
Gene
FIG4
/ FIG4 Phosphoinositide 5-Phosphatase
6q21
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Phosphatidylinositol 3,5-bisphosphate 5-phosphatase
Disease group(s)
14.5.2 Disorders of phosphatidylinositol metabolism
Child entries
Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4J
Bilateral parasagittal parieto-occipital polymicrogyria
Yunis-Varon syndrome