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.