KEGG   VARIANT: 55777v1
Entry
55777v1                      Variant                               
Name
MBD5 mutation
Type
Loss of function
Gene
MBD5  methyl-CpG binding domain protein 5 [KO:K23219]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611472
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
  Authors
Le TNU, Ha TMT
  Title
MBD5-related intellectual disability in a Vietnamese child.
  Journal
Am J Med Genet A 185:1321-1323 (2021)
DOI:10.1002/ajmg.a.62077
LinkDB

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