MED25

mediator complex subunit 25
OMIM: 610197
PanelMode of inheritanceDetails
3 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basel-Vanagait-Smirin-Yosef syndrome OMIM:616449
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Basel-Vanagait-Smirin-Yosef syndrome, 616449, BVSYS, Syndromic intellectual disability, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome