X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
Findings
No curated finding names X-linked intellectual disability-cubitus valgus-dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.
Definition from the Mondo Disease Ontology (MONDO:0010332), read 2026-09-29. CC BY 4.0.
Features
17 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Cubitus valgusHPOHP:0002967
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Downturned corners of mouthHPOHP:0002714
- Very frequent (80% to 99% of cases)
- Melanocytic nevusHPOHP:0000995
- Very frequent (80% to 99% of cases)
Show the remaining 5
- Bilateral single transverse palmar creasesHPOHP:0007598
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
- Pectus excavatumHPOHP:0000767
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- Occasional (5% to 29% of cases)
- Tapered fingerHPOHP:0001182
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
- Also called
- Cubitus valgus with mental retardation and unusual facies, X-linked recessive