X-linked intellectual disability, Stevenson type
Findings
No curated finding names X-linked intellectual disability, Stevenson type 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 intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.
Definition from the Mondo Disease Ontology (MONDO:0019422), read 2026-09-29. CC BY 4.0.
Features
22 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 dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- AreflexiaHPOHP:0001284
- Very frequent (80% to 99% of cases)
- Broad columellaHPOHP:0010761
- Very frequent (80% to 99% of cases)
- Genu valgumHPOHP:0002857
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypotonia
Show the remaining 10
- Thick nasal alaeHPOHP:0009928
- Very frequent (80% to 99% of cases)
- Thickened helicesHPOHP:0000391
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Large handsHPOHP:0001176
- Frequent (30% to 79% of cases)
- Long footHPOHP:0001833
- Frequent (30% to 79% of cases)