MIA3

MIA family member 3, ER export factor
OMIM: 613455, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MIA3 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269

Amber MIA3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.305

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269

Amber MIA3 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269