TMEM185A

transmembrane protein 185A
OMIM: 300031, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red TMEM185A_FRAXF_GCC STR in Repeat Disorders


Version 0.256

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual disability
Tags
  • paediatric-onset