intellectual developmental disorder with severe speech and ambulation defects
Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene.
MONDO:0700120
BAFopathy
is_a
ACTL6B-related BAFopathy
exact
IDDSSAD
related
SPAC23D3.09 SPAC1071.06 SPBP23A10.08