X-linked intellectual disability, Schimke type
Findings
No curated finding names X-linked intellectual disability, Schimke type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.
Definition from the Mondo Disease Ontology (MONDO:0010729), read 2026-09-29. CC BY 4.0.
Features
26 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.
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- ChoreoathetosisHPOHP:0001266
- Frequent (30% to 79% of cases)
- DyskinesiaHPOHP:0100660
- Frequent (30% to 79% of cases)
- External ophthalmoplegiaHPOHP:0000544
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Global developmental delayHPO
Show the remaining 14
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Ankle flexion contractureHPOHP:0006466
- Occasional (5% to 29% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Occasional (5% to 29% of cases)
- Deeply set eyeHPOHP:0000490
- Occasional (5% to 29% of cases)
- Elbow flexion contractureHPOHP:0002987
- Occasional (5% to 29% of cases)