intellectual disability, X-linked 99, syndromic, female-restricted
Findings
No curated finding names intellectual disability, X-linked 99, syndromic, female-restricted yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.
Definition from the Mondo Disease Ontology (MONDO:0010502), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
25 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.
- Global developmental delayHPOHP:0001263
- 17 of 17 reported patients
- VentriculomegalyHPOHP:0002119
- 8 of 11 reported patients
- Hearing impairmentHPOHP:0000365
- 11 of 17 reported patients
- ScoliosisHPOHP:0002650
- 11 of 17 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 8 of 13 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 6 of 11 reported patients
- Anal atresiaHPOHP:0002023
Show the remaining 13
- Lower limb asymmetryHPOHP:0100559
- 7 of 17 reported patients
- Dandy-Walker malformationHPOHP:0001305
- 5 of 13 reported patients
- Abnormality of thyroid physiologyHPOHP:0002926
- 6 of 17 reported patients
- Choanal atresiaHPOHP:0000453
- 6 of 17 reported patients
- Bifid uvulaHPOHP:0000193
- 5 of 17 reported patients
- HypertrichosisHPOHP:0000998
- 5 of 17 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.
- USP9XHGNC:12632
- Definitive · G2P · X-linked · 2019
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 99, syndromic, female-restricted
- Also called
- intellectual developmental disorder, X-linked 99, syndromic, female-restricted, X-linked dominantmental retardation, X-linked 99, syndromic, female-restrictedMRXS99FUSP9X X-linked syndromic intellectual disabilityX-linked syndromic intellectual disability caused by mutation in USP9X