intellectual disability, autosomal recessive 47
Findings
No curated finding names intellectual disability, autosomal recessive 47 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 FMN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014524), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 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.
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 5 reported patients
- Poor speechHPOHP:0002465
- 4 of 5 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 5 reported patients · Juvenile onset
- Generalized hypotoniaHPOHP:0001290
- 2 of 5 reported patients
- Mitral valve prolapse
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.
- FMN2HGNC:14074
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, autosomal recessive 47
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2FMN2 autosomal recessive non-syndromic intellectual disabilityintellectual developmental disorder, autosomal recessive 47intellectual disability, autosomal recessive type 47mental retardation, autosomal recessive type 47