LTV1 deficiency

(IPHAK syndrome)

Synonym(s)
- Inflammatory poikiloderma with hair abnormalities and acral keratoses
Type

Disease
Gene
- LTV1 / LTV1 Ribosome Biogenesis Factor
  6q24.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- LTV1 ribosome biogenesis factor
Disease group(s)
- 16.5 Other disorders of ribosomal biogenesis