intellectual disability, autosomal recessive 44
Findings
No curated finding names intellectual disability, autosomal recessive 44 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 METTL23 gene.
Definition from the Mondo Disease Ontology (MONDO:0014409), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Anteverted naresHPOHP:0000463
- 3 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 3 of 3 reported patients
- Flat occiputHPOHP:0005469
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 4 reported patients
- Pes planusHPOHP:0001763
- 4 of 4 reported patients
- Thin vermilion borderHPOHP:0000233
Show the remaining 2
- Long philtrumHPOHP:0000343
- 1 of 3 reported patients
- Global developmental delayHPOHP:0001263
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.
- METTL23HGNC:26988
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: intellectual disability, autosomal recessive 44
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23intellectual disability, autosomal recessive type 44mental retardation, autosomal recessive type 44METTL23 autosomal recessive non-syndromic intellectual disability