Gene Symbol:
MBD5
HGNC:20444
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q23.1
Filters:

ClinGen classifications

complex neurodevelopmental disorder
AD
02/15/2023
Evaluated
04/21/2024
Submitted

Invitae classifications

intellectual disability, autosomal dominant 1
Submitted as: OMIM:156200
AD
01/05/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

autosomal dominant non-syndromic intellectual disability
Submitted as: Orphanet:178469
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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