1. Genes and Genomic Entities
  2. AFF2_GCC

AFF2_GCC

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red AFF2_GCC STR in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Literature
    Phenotypes
    • Intellectual developmental disorder, X-linked 109, OMIM:309548
    • FRAXE intellectual disability, MONDO:0010659
    Tags
    • STR
    • NGS Not Validated