rs587779768, AHDC1

N. diseases: 7
Disease: Neonatal Hypotonia ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
0.700 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903 2014