developmental and speech delay due to SOX5 deficiency
Findings
No curated finding names developmental and speech delay due to SOX5 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic syndrome characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).
Definition from the Mondo Disease Ontology (MONDO:0017782), read 2026-09-29. CC BY 4.0.
Features
31 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
- Obligate (100% of cases)
- Motor delayHPOHP:0001270
- Obligate (100% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Hyperplasia of the maxillaHPOHP:0430028
- Very frequent (80% to 99% of cases)
- 2-3 toe syndactylyHPOHP:0004691
- Frequent (30% to 79% of cases)
- Abnormal brain morphologyHPOHP:0012443
- Frequent (30% to 79% of cases)
- Anxiety
Show the remaining 19
- Lumbar hyperlordosisHPOHP:0002938
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Narrow palateHPOHP:0000189
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
- Pectus carinatumHPOHP:0000768
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% 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.
- SOX5HGNC:11201
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of