Condition: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
rs587779768
in
AHDC1
gene and
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
PMID 24791903
2014 De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.