Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.510 GermlineCausalMutation ORPHANET We report living sibling patients with a homozygous no-stop mutation in exon 4 of HYLS1, NM_145014.2:c.900A>C (p.Ter300TyrextTer11) in the second decade of life.The proband has Joubert syndrome (JS). 26830932

2016