LBX1:Ensemblv90

ladybird homeobox 1
OMIM: 604255, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber LBX1 in Central Hypoventilation


Level 2: Neurology and neurodevelopmental disorders
Version 1.6

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Central hypoventilation syndrome, congenital, 3, MIM#619483

Amber LBX1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Central hypoventilation syndrome, congenital, 3, MIM#619483

Amber LBX1 in Central Hypoventilation


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Central hypoventilation syndrome, congenital, 3, MIM#619483