SIN3A-related intellectual disability syndrome due to a point mutation
MONDO:0044700Mondo
Findings
No curated finding names SIN3A-related intellectual disability syndrome due to a point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
20 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- Decreased head circumferenceHPOHP:0040195
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Mild malformation of cortical developmentHPOHP:0032059
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Occasional (5% to 29% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Occasional (5% to 29% of cases)
Show the remaining 8
- ClinodactylyHPOHP:0030084
- Occasional (5% to 29% of cases)
- Compulsive behaviorsHPOHP:0000722
- Occasional (5% to 29% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Occasional (5% to 29% of cases)
- Dysplastic corpus callosumHPOHP:0006989
- Occasional (5% to 29% of cases)
- Fine hairHPOHP:0002213
- Occasional (5% to 29% of cases)
- Fragile nailsHPOHP:0001808
- Occasional (5% to 29% of cases)
Genes
2 genes
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.