Heyn-Sproul-Jackson syndrome
MONDO:0032882Mondo
Findings
No curated finding names Heyn-Sproul-Jackson syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
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.
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Severe short statureHPOHP:0003510
- 3 of 3 reported patients
- 11 pairs of ribsHPOHP:0000878
- 1 of 3 reported patients
- Broad foreheadHPOHP:0000337
- Broad metacarpalsHPOHP:0001230
- Broad phalanxHPOHP:0006009
- Decreased body weightHPOHP:0004325
- Delayed speech and language developmentHPOHP:0000750
- EpicanthusHPOHP:0000286
- Global developmental delayHPOHP:0001263
- Intrauterine growth retardationHPOHP:0001511
- Short metacarpalHPOHP:0010049
Show the remaining 3
- Short phalanx of fingerHPOHP:0009803
- Sparse hairHPOHP:0008070
- StrabismusHPOHP:0000486
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.
- DNMT3AHGNC:2978
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Limited · ClinGen · Autosomal dominant · 2023
Where it sits
- A kind of