MED12L

mediator complex subunit 12 like
OMIM: 611318, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber MED12L 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Nizon-Isidor syndrome, OMIM:618872
    • Nizon-Isidor syndrome, MONDO:0030030
    Tags
    • Q3_25_promote_green