PHLDB1

pleckstrin homology like domain family B member 1
OMIM: 612834, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PHLDB1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Osteogenesis imperfecta, type XXIII, MIM# 620639

Amber PHLDB1 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 0.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Osteogenesis imperfecta, type XXIII, MIM# 620639