intellectual disability, autosomal dominant 1
Findings
No curated finding names intellectual disability, autosomal dominant 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007974), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
51 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- ConstipationHPOHP:0002019
- 2 of 2 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 1 reported patient · Infantile onset
- Inappropriate laughterHPOHP:0000748
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Reduced social responsivenessHPO
Show the remaining 39
- AstigmatismHPOHP:0000483
- 1 of 2 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 2 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 2 reported patients
- BruxismHPOHP:0003763
- 1 of 2 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 2 reported patients
- Clavicular pseudarthrosisHPOHP:0034187
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MBD5HGNC:20444
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2019
Where it sits
Other names
6 names
Resolves to: intellectual disability, autosomal dominant 1
- Also called
- autosomal dominant intellectual disability 1autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5intellectual disability, autosomal dominant type 1MBD5 autosomal dominant non-syndromic intellectual disabilitymental retardation, autosomal dominant type 1MRD1