intellectual disability, autosomal dominant 22
Findings
No curated finding names intellectual disability, autosomal dominant 22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene.
Definition from the Mondo Disease Ontology (MONDO:0012869), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
21 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.
- BruxismHPOHP:0003763
- 1 of 1 reported patient
- Choroid plexus cystHPOHP:0002190
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Fetal pyelectasisHPOHP:0010945
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
Show the remaining 9
- Long noseHPOHP:0003189
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Proportionate short statureHPOHP:0003508
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Short palpebral fissureHPOHP:0012745
- 1 of 1 reported patient
- Short philtrumHPOHP:0000322
- 1 of 1 reported patient
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.
- ZBTB18HGNC:13030
- Definitive · Illumina · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: intellectual disability, autosomal dominant 22
- Also called
- autosomal dominant intellectual disability 22autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18intellectual disability, autosomal dominant type 22mental retardation, autosomal dominant type 22MRD22ZBTB18 autosomal dominant non-syndromic intellectual disability