intellectual disability, autosomal recessive 5
Findings
No curated finding names intellectual disability, autosomal recessive 5 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 NSUN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012613), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
30 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 12 of 12 reported patients
- Inverted nipplesHPOHP:0003186
Show the remaining 18
- MicrocephalyHPOHP:0000252
- 9 of 11 reported patients
- HypertoniaHPOHP:0001276
- 11 of 14 reported patients
- Achilles tendon contractureHPOHP:0001771
- 2 of 3 reported patients
- Broad-based gaitHPOHP:0002136
- 2 of 3 reported patients
- Pes cavusHPOHP:0001761
- 2 of 3 reported patients
- Short statureHPOHP:0004322
- 8 of 12 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.
- NSUN2HGNC:25994
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: intellectual disability, autosomal recessive 5
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2intellectual disability, autosomal recessive type 5mental retardation, autosomal recessive type 5NSUN2 autosomal recessive non-syndromic intellectual disability