EIEE1_tract1

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green EIEE1_tract1 STR in Repeat Disorders


Version 0.167

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 1 MIM#308350
  • Intellectual disability, X-linked 29 and others MIM#300419
  • Partington syndrome MIM#309510
Tags
  • paediatric-onset