intellectual disability, autosomal recessive 51
Findings
No curated finding names intellectual disability, autosomal recessive 51 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 HNMT gene.
Definition from the Mondo Disease Ontology (MONDO:0014759), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Delayed speech and language developmentHPOHP:0000750
- Global developmental delayHPOHP:0001263
- Intellectual disabilityHPOHP:0001249
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.
- HNMTHGNC:5028
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal recessive 51
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in HNMTHNMT autosomal recessive non-syndromic intellectual disabilityintellectual developmental disorder, autosomal recessive 51intellectual disability, autosomal recessive type 51mental retardation, autosomal recessive 51mental retardation, autosomal recessive type 51MRT51