intellectual developmental disorder, X-linked, syndromic, Pilorge type
MONDO:0024772Mondo
Findings
No curated finding names intellectual developmental disorder, X-linked, syndromic, Pilorge type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- AutismHPOHP:0000717
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 2 reported patients
- High myopiaHPOHP:0011003
- 1 of 2 reported patients
- HyperactivityHPOHP:0000752
- 1 of 2 reported patients
- Inflexible adherence to routinesHPOHP:0000732
- 1 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 2 reported patients
- Poor suckHPOHP:0002033
- 1 of 2 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 1 of 2 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.
- GLRA2HGNC:4327
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
1 name
Resolves to: intellectual developmental disorder, X-linked, syndromic, Pilorge type
- Also called
- MRXSP