intellectual disability, X-linked 96
Findings
No curated finding names intellectual disability, X-linked 96 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.
Definition from the Mondo Disease Ontology (MONDO:0010429), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
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.
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
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.
- SYPHGNC:11506
- Definitive · G2P · X-linked · 2025
- Strong · PanelApp Australia · X-linked · 2025
- Limited · Ambry Genetics · X-linked · 2024
- Limited · Illumina · X-linked · 2020
- Limited · Labcorp Genetics (formerly Invitae) · X-linked · 2018
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 96
- Also called
- intellectual developmental disorder, X-linked 96, X-linked recessiveintellectual disability, X-linked type 96mental retardation, X-linked type 96non-syndromic X-linked intellectual disability caused by mutation in SYPSYP non-syndromic X-linked intellectual disability