intellectual disability, autosomal recessive 52
Findings
No curated finding names intellectual disability, autosomal recessive 52 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 LMAN2L gene.
Definition from the Mondo Disease Ontology (MONDO:0014815), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
4 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.
- Severe intellectual disabilityHPOHP:0010864
- 7 of 7 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 7 reported patients
- Global developmental delayHPOHP:0001263
- SeizureHPOHP:0001250
- Infantile onset
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.
- LMAN2LHGNC:19263
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal recessive 52
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2Lintellectual developmental disorder, autosomal recessive 52intellectual disability, autosomal recessive type 52LMAN2L autosomal recessive non-syndromic intellectual disabilitymental retardation, autosomal recessive 52mental retardation, autosomal recessive type 52MRT52