LTV1

LTV1 ribosome biogenesis factor
OMIM: 620074, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber LTV1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199