intellectual disability-hypotonia-spasticity-sleep disorder syndrome
MONDO:0014210Mondo
Findings
No curated finding names intellectual disability-hypotonia-spasticity-sleep disorder syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Sleep disturbanceHPOHP:0002360
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- BruxismHPOHP:0003763
- Frequent (30% to 79% of cases)
- HyperactivityHPOHP:0000752
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 3 of 5 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 4
- Large for gestational ageHPOHP:0001520
- Occasional (5% to 29% of cases)
- MacrocephalyHPOHP:0000256
- Occasional (5% to 29% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- 0 of 2 reported patients
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.
- ANK3HGNC:494
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: intellectual disability-hypotonia-spasticity-sleep disorder syndrome
- Also called
- intellectual disability, autosomal recessive type 37mental retardation, autosomal recessive type 37mental retardation, autosomal recessive, 37