Condition: Abnormal CNS myelination
rs1562846694
in
ACTL6B;TFR2
gene and
Abnormal CNS myelination
PMID 31134736
2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.