intellectual disability, autosomal recessive 1
Findings
No curated finding names intellectual disability, autosomal recessive 1 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 PRSS12 gene.
Definition from the Mondo Disease Ontology (MONDO:0009580), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
2 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
- 5 of 5 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 0 of 4 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.
- HGNC:9477HGNC:9477
- Definitive · G2P · Autosomal recessive · 2015
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
4 names
Resolves to: intellectual disability, autosomal recessive 1
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12intellectual disability, autosomal recessive type 1mental retardation, autosomal recessive type 1PRSS12 autosomal recessive non-syndromic intellectual disability