HEPHL1

hephaestin like 1
ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red HEPHL1 in Mendeliome


Version 1.2302

1 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

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