syndromic X-linked intellectual disability Claes-Jensen type
MONDO:0010355Mondo
Findings
No curated finding names syndromic X-linked intellectual disability Claes-Jensen type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
54 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.
- Cubitus valgusHPOHP:0002967
- 2 of 2 reported patients
- Decreased body weightHPOHP:0004325
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Furrowed tongueHPOHP:0000221
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HyperactivityHPOHP:0000752
- 3 of 3 reported patients
- Large handsHPOHP:0001176
- 2 of 2 reported patients
- MacrotiaHPOHP:0000400
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- Pectus excavatumHPOHP:0000767
- 2 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 3 of 3 reported patients
Show the remaining 42
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 3 of 3 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 25 of 26 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 20 reported patients
- Very frequent (80% to 99% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
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.
- KDM5CHGNC:11114
- Definitive · Ambry Genetics · X-linked · 2024
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: syndromic X-linked intellectual disability Claes-Jensen type
- Also called
- intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, X-linked recessiveintellectual disability, X-linked, syndromic, Claes-Jensen typemental retardation, X-linked, syndromic, Claes-Jensen typeMRXSCJMRXSJsyndromic X-linked intellectual disability JARID1C-related