PHLDB1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PHLDB1 in Mendeliome


Version 1.2302

2 reviews 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 1.0

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