Condition: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2


rs1214104267 in PIGO gene and HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 PMID 28337824 2017 Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

PMID 24049131 2013 Vitamin B6-responsive epilepsy due to inherited GPI deficiency.

PMID 22683086 2012 Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

PMID 28545593 2017 PIGO deficiency: palmoplantar keratoderma and novel mutations.

PMID 24417746 2014 PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.