X-linked intellectual disability with marfanoid habitus
Findings
No curated finding names X-linked intellectual disability with marfanoid habitus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.
Definition from the Mondo Disease Ontology (MONDO:0010655), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
44 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.
- High palateHPOHP:0000218
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Long faceHPOHP:0000276
- 7 of 7 reported patients
- Narrow faceHPOHP:0000275
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- 7 of 7 reported patients
- Frequent (30% to 79% of cases)
- Dental crowdingHPOHP:0000678
- 5 of 6 reported patients
- Occasional (5% to 29% of cases)
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
Show the remaining 32
- Intellectual disabilityHPOHP:0001249
- 3 of 4 reported patients
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- 5 of 7 reported patients
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Tall statureHPOHP:0000098
- 3 of 4 reported patients
- Agenesis of corpus callosumHPOHP:0001274
Genes
3 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.
Where it sits
Other names
3 names
Resolves to: X-linked intellectual disability with marfanoid habitus
- Also called
- Lujan syndromeLujan-Fryns syndromeLujan-Fryns syndrome, X-linked recessive