8q13 deletion Mesomelia-Synostoses Syndrome

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green 8q13 deletion Mesomelia-Synostoses Syndrome Region in Mendeliome


Version 2.636

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mesomelia-synostoses syndrome, MIM#600383
Tags
  • regulatory region

Green 8q13 deletion Mesomelia-Synostoses Syndrome Region in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.153

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Mesomelia-synostoses syndrome, MIM#600383
Tags
  • regulatory region

Green 8q13 deletion Mesomelia-Synostoses Syndrome Region in Fetal anomalies


Version 2.91

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Mesomelia-synostoses syndrome, MIM#600383
Tags
  • regulatory region