recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Findings
No curated finding names recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.
Definition from the Mondo Disease Ontology (MONDO:0017232), read 2026-09-29. CC BY 4.0.
Features
20 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
- Very frequent (80% to 99% of cases)
- Developmental regressionHPOHP:0002376
- Very frequent (80% to 99% of cases)
- Limb joint contractureHPOHP:0003121
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Ankle flexion contractureHPOHP:0006466
- Frequent (30% to 79% of cases)
- Elbow flexion contractureHPOHP:0002987
- Frequent (30% to 79% of cases)
Show the remaining 8
- Ankle clonusHPOHP:0011448
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
- Hand tremorHPOHP:0002378
- Occasional (5% to 29% of cases)
- High palateHPOHP:0000218
- Occasional (5% to 29% of cases)
- Short philtrumHPOHP:0000322
- Occasional (5% to 29% of cases)
- SynophrysHPOHP:0000664
- 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.
- ERLIN2HGNC:1356
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
- Also called
- IDMDC