intellectual disability, autosomal recessive 56
Findings
No curated finding names intellectual disability, autosomal recessive 56 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.
Definition from the Mondo Disease Ontology (MONDO:0014930), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Intellectual disabilityHPOHP:0001249
- 6 of 6 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.
- ZC3H14HGNC:20509
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal recessive 56
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14intellectual developmental disorder, autosomal recessive 56intellectual disability, autosomal recessive type 56mental retardation, autosomal recessive 56mental retardation, autosomal recessive type 56MRT56ZC3H14 autosomal recessive non-syndromic intellectual disability