intellectual disability-strabismus syndrome
MONDO:0014119Mondo
Findings
No curated finding names intellectual disability-strabismus 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
75 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
- 24 of 24 reported patients
- Very frequent (80% to 99% of cases)
- EsotropiaHPOHP:0000565
- 22 of 24 reported patients
- Failure to thriveHPOHP:0001508
- 22 of 24 reported patients
- Very frequent (80% to 99% of cases)
- StrabismusHPO · MondoHP:0000486
- Very frequent (80% to 99% of cases)
- Abnormal brain morphologyHPOHP:0012443
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- 11 of 24 reported patients
- Frequent (30% to 79% of cases)
- Prominent foreheadHPOHP:0011220
- Frequent (30% to 79% of cases)
Show the remaining 63
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- 7 of 24 reported patients
- Frequent (30% to 79% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Frequent (30% to 79% of cases)
- Achilles tendon contractureHPOHP:0001771
- Occasional (5% to 29% of cases)
- Aggressive behaviorHPOHP:0000718
- Occasional (5% to 29% of cases)
- Atrial septal defectHPOHP:0001631
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.
- ADAT3HGNC:25151
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: intellectual disability-strabismus syndrome
- Also called
- intellectual disability, autosomal recessive type 36mental retardation, autosomal recessive type 36neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies