Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

2014