X-linked syndromic intellectual disability
MONDO:0020119Mondo
Findings
No curated finding names X-linked syndromic intellectual disability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic intellectual disability with an X-linked mode of inheritance.
Definition from the Mondo Disease Ontology (MONDO:0020119), read 2026-09-29. CC BY 4.0.
Genes
10 genes
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.
- BRWD3HGNC:17342
- Definitive · ClinGen · X-linked · 2018
- CASKHGNC:1497
- Definitive · ClinGen · X-linked · 2019
- DDX3XHGNC:2745
- Definitive · ClinGen · X-linked · 2020
- Definitive · Illumina · X-linked · 2019
- NONOHGNC:7871
- Definitive · ClinGen · X-linked · 2023
- RPL10HGNC:10298
- Definitive · ClinGen · X-linked · 2024
- USP9XHGNC:12632
- Definitive · ClinGen · X-linked · 2021
- ZC4H2HGNC:24931
- Definitive · ClinGen · X-linked · 2020
- LAS1LHGNC:25726
- Limited · ClinGen · X-linked · 2021
- STEEP1HGNC:26239
- Limited · Illumina · X-linked · 2020
- RAB40ALHGNC:25410
- Refuted Evidence · ClinGen · X-linked · 2021
Where it sits
- Narrower terms (81)
- Allan-Herndon-Dudley syndrome
- ATR-X-related syndrome
- Borjeson-Forssman-Lehmann syndrome
- Coffin-Lowry syndrome
- corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- early-onset parkinsonism-intellectual disability syndrome
- intellectual disability, X-linked 49
- intellectual disability, X-linked 99, syndromic, female-restricted
- intellectual disability, X-linked syndromic, Turner type
- intellectual disability, X-linked, syndromic 33
- intellectual disability, X-linked, syndromic, Bain type
- MEHMO syndrome
- Partington syndrome
- Prieto syndrome
- Renpenning syndrome
- severe X-linked intellectual disability, Gustavson type
- skeletal dysplasia-intellectual disability syndrome
Other names
4 names
Resolves to: X-linked syndromic intellectual disability
- Also called
- intellectual disability, X-linked syndromicmental retardation, X-linked syndromicsyndromic intellectual disability, X-linkedsyndromic X-linked intellectual disability