HEPHL1

hephaestin like 1
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red HEPHL1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Abnormal hair, joint laxity, and developmental delay (MIM#261990)

Red HEPHL1 in Hair disorders


Level 2: Dermatological disorders
Version 0.71

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Abnormal hair, joint laxity, and developmental delay (MIM#261990)