infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
MONDO:0033864Mondo
Findings
No curated finding names infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
62 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 ability to walkHPOHP:0031936
- 4 of 4 reported patients
- Absent speechHPOHP:0001344
- 9 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Self-injurious behaviorHPOHP:0100716
- 9 of 11 reported patients
- Autistic behaviorHPOHP:0000729
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- EsotropiaHPOHP:0000565
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- 4 of 11 reported patients
- Frequent (30% to 79% of cases)
- Hyperkinetic movementsHPOHP:0002487
- 1 of 11 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
Show the remaining 50
- Motor stereotypyHPOHP:0000733
- 4 of 11 reported patients
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- 5 of 11 reported patients
- Frequent (30% to 79% of cases)
- Poor visual behavior for ageHPOHP:0025152
- Frequent (30% to 79% of cases)
- Reduced eye contactHPOHP:0000817
- Frequent (30% to 79% of cases)
- Repetitive compulsive behaviorHPOHP:0008762
- Frequent (30% to 79% of cases)
- Sleep disturbanceHPOHP:0002360
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.
- SYT1HGNC:11509
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Illumina · Autosomal dominant · 2019
Where it sits
Other names
1 name
Resolves to: infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- Also called
- Baker-Gordon syndrome