Condition: Extrapyramidal sign
rs1562846694
in
ACTL6B;TFR2
gene and
Extrapyramidal sign
PMID 31134736
2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
rs431905504
in
SLC6A3
gene and
Extrapyramidal sign
PMID 22279524
2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.