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intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, X-linked, syndromic, Pilorge type

MONDO:0024772

Also known as:MRXSP

Overview

GeneticsX-linked · GLRA2 (chr X)

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: Delayed speech and language development and Autism; and common findings: Bilateral tonic-clonic seizure, Mild intellectual disability, Poor suck, and Recurrent otitis media and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Bilateral tonic-clonic seizure, Delayed speech and language development, Mild intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GLRA2 encodes glycine receptor alpha 2 (452 aa). Subunit of heteromeric glycine-gated chloride channels. Plays a role in synaptic plasticity. Highest expression in Brain Cerebellar Hemisphere (16.4 TPM) and Brain Cerebellum (13.4 TPM).

Intellectual developmental disorder, X-linked, syndromic, Pilorge type is associated with mutations in the GLRA2 gene on chromosome X.

GLRA2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 3.1.

Diagnosis

Genetic testing for GLRA2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 7 common features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301076

Questions for Your Care Team

→Should female family members consider carrier screening for GLRA2?
→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 developmental disorder, X-linked, syndromic, Pilorge type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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