Condition: Congenital neurologic anomalies
rs1566974586
in
GALC
gene and
Congenital neurologic anomalies
PMID 30209698
2018 A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
rs1567871748
in
PGAP3
gene and
Congenital neurologic anomalies
PMID 30217754
2019 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.