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.