Condition: Poor eye contact
rs1562846694
in
ACTL6B;TFR2
gene and
Poor eye contact
PMID 31134736
2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
rs876661308
in
MEF2C
gene and
Poor eye contact
PMID 27255693
2016 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.