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intellectual disability, autosomal recessive 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 1

MONDO:0009580

Also known as:PRSS12 autosomal recessive non-syndromic intellectual disabilityautosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12intellectual disability, autosomal recessive type 1

Overview

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.

GeneticsAutosomal recessive · PRSS12 (chr 4)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Severe intellectual disability. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Strabismus, Nystagmus
Brain and nerves

Genetic Landscape

PRSS12 function has not been fully characterized.

Intellectual disability, autosomal recessive 1 is associated with mutations in the PRSS12 gene on chromosome 4.

Diagnosis

Genetic testing for PRSS12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual disability, autosomal recessive 1.

139 publications have been identified in PubMed for intellectual disability, autosomal recessive 1. Research spans Case Report / Case Series (42%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Patient case studies	49	42%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:249500

GARD

Genetic and Rare Diseases Info Center

GARD:22537

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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intellectual disability, autosomal recessive 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability, autosomal recessive 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications