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Intellectual Disability, Autosomal Dominant 1 (MONDO:0007974)

An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0007974

Internal:9302

Synonyms

MBD5 autosomal dominant non-syndromic intellectual disability

MRD1

autosomal dominant intellectual disability 1

autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5

intellectual disability, autosomal dominant 1

intellectual disability, autosomal dominant type 1

mental retardation, autosomal dominant type 1

autosomal dominant non-syndromic intellectual disability 1

chromosome 2Q23.1 deletion syndrome

mental retardation, autosomal dominant 1

Mapped terms

DOID:0070031

GARD:0018623

MEDGEN:409857

MESH:C566947

NCIT:C141424

OMIM:156200

UMLS:C1969562

Child terms

Unknown children.

Results

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