X-linked intellectual disability-hypotonia-movement disorder syndrome
MONDO:0018709Mondo
Findings
No curated finding names X-linked intellectual disability-hypotonia-movement disorder syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
23 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.
- Intellectual disabilityHPOHP:0001249
- Obligate (100% of cases)
- Abnormality of visionHPOHP:0000504
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- Broad-based gaitHPOHP:0002136
- Frequent (30% to 79% of cases)
- DyskinesiaHPOHP:0100660
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- HyperactivityHPOHP:0000752
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Occasional (5% to 29% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Occasional (5% to 29% of cases)
Show the remaining 11
- Cortical dysplasiaHPOHP:0002539
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Occasional (5% to 29% of cases)
- Joint hypermobilityHPOHP:0001382
- Occasional (5% to 29% of cases)
- Orofacial cleftHPOHP:0000202
- Occasional (5% to 29% of cases)
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.
- DDX3XHGNC:2745
- Supportive · Orphanet · X-linked · 2021