syndromic X-linked intellectual disability 94
Findings
No curated finding names syndromic X-linked intellectual disability 94 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.
Definition from the Mondo Disease Ontology (MONDO:0010402), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
67 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.
- Aggressive behaviorHPOHP:0000718
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- BrachycephalyHPOHP:0000248
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Deeply set eyeHPOHP:0000490
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Focal tonic seizureHPOHP:0011167
- 1 of 1 reported patient
- Frontal cortical atrophyHPOHP:0006913
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
Show the remaining 55
- Severe intellectual disabilityHPOHP:0010864
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 4 of 5 reported patients
- Occasional (5% to 29% of cases)
- Slender buildHPOHP:0001533
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.
- GRIA3HGNC:4573
- Definitive · G2P · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
- Limited · Ambry Genetics · X-linked · 2022
Where it sits
Other names
8 names
Resolves to: syndromic X-linked intellectual disability 94
- Also called
- intellectual developmental disorder, X-linked, syndromic, Wu type, X-linked recessiveintellectual disability, X-linked 94mental retardation, X-linked 94MRX94MRXS29syndromic X-linked intellectual disability 29syndromic X-linked intellectual disability type 94syndromic X-linked intellectual disability Wu type