P4HA1

prolyl 4-hydroxylase subunit alpha 1
OMIM: 176710, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red P4HA1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Joint hypermobility
  • Contractures
  • Hypotonia
  • Mild skeletal dysplasia without bone fragility
  • High myopia

Red P4HA1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Joint hypermobility
  • Contractures
  • Hypotonia
  • Mild skeletal dysplasia without bone fragility
  • High myopia