AFF2_FRAXE_GCC

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green AFF2_FRAXE_GCC STR in Mendeliome


Version 1.2511

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, X-linked 109 MIM#309548

Green AFF2_FRAXE_GCC STR in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.117

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fragile X syndrome, FRAXE type (OMIM 309548)
Tags
  • STR

Green AFF2_FRAXE_GCC STR in Repeat Disorders


Version 0.256

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, X-linked 109 MIM#309548
Tags
  • paediatric-onset