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