COMP_MEDPSACH_GAC

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green COMP_MEDPSACH_GAC STR in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.444

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Epiphyseal dysplasia, multiple, 1 MIM#132400
  • Pseudoachondroplasia MIM#177170
Tags
  • paediatric-onset

Green COMP_MEDPSACH_GAC STR in Repeat Disorders


Version 0.272

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epiphyseal dysplasia, multiple, 1 MIM#132400
  • Pseudoachondroplasia MIM#177170
Tags
  • paediatric-onset