KHDC3L

KH domain containing 3 like, subcortical maternal complex member
OMIM: 611687, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green KHDC3L in Multi Locus Imprinting Disorder (MLID)


Level 2: Endocrinology
Version 2.5
Latest signed off version: v2.4 (12 Aug 2026)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Hydatidiform mole, recurrent, 2 OMIM:614293
  • hydatidiform mole, recurrent, 2 MONDO:0013671
Red KHDC3L in Monogenic short stature


Level 2: Endocrinology
Version 2.9
Latest signed off version: v2.8 (12 Aug 2026)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • IUGR
  • Failure to thrive
  • Hydatidiform mole, recurrent, 2 OMIM:614293
  • hydatidiform mole, recurrent, 2 MONDO:0013671
  • pregnancy loss
Tags
  • watchlist