intellectual disability, anterior maxillary protrusion, and strabismus
MONDO:0013353Mondo
Findings
No curated finding names intellectual disability, anterior maxillary protrusion, and strabismus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
15 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.
- Joint hypermobilityHPOHP:0001382
- 7 of 7 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 7 of 7 reported patients
- Dental crowdingHPOHP:0000678
- 6 of 7 reported patients
- EsotropiaHPOHP:0000565
- 6 of 7 reported patients
- Hyperplasia of the maxillaHPOHP:0430028
- 6 of 7 reported patients
- Open biteHPOHP:0010807
- 6 of 7 reported patients
- StrabismusHPOHP:0000486
- 6 of 7 reported patients
- Short attention spanHPOHP:0000736
- 4 of 7 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 7 reported patients
- HypermetropiaHPOHP:0000540
- 1 of 7 reported patients
- PsychosisHPOHP:0000709
- 1 of 7 reported patients
- Visual impairmentHPOHP:0000505
- 1 of 7 reported patients
Show the remaining 3
- Delayed speech and language developmentHPOHP:0000750
- Global developmental delayHPOHP:0001263
- Poor speechHPOHP:0002465
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.
- SOBPHGNC:29256
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2015
Where it sits
- A kind of