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.