Entry |
|
Name |
|
Type |
Loss of function
|
Gene |
MBD5 methyl-CpG binding domain protein 5 [KO: K23219]
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
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 |
|
LinkDB |
|