orofaciodigital syndrome 19
MONDO:0859310Mondo
Findings
No curated finding names orofaciodigital syndrome 19 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
- Congenital onset
HPO, annotations 2026-09-02
Features
40 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.
- Chin with horizontal creaseHPOHP:0011823
- 4 of 4 reported patients
- Postaxial foot polydactylyHPOHP:0001830
- 4 of 4 reported patients
- Postaxial hand polydactylyHPOHP:0001162
- 4 of 4 reported patients
- RetrognathiaHPOHP:0000278
- 4 of 4 reported patients
- Toe syndactylyHPOHP:0001770
- 4 of 4 reported patients
- Tongue nodulesHPOHP:0000199
- 4 of 4 reported patients
- Type A brachydactylyHPOHP:0009370
- 4 of 4 reported patients
- Wide nasal bridgeHPOHP:0000431
- 4 of 4 reported patients
- Accessory oral frenulumHPOHP:0000191
- 3 of 4 reported patients
- Broad halluxHPOHP:0010055
- 3 of 4 reported patients
- Downturned corners of mouthHPOHP:0002714
- 3 of 4 reported patients
- EpicanthusHPOHP:0000286
- 3 of 4 reported patients
Show the remaining 28
- High palateHPOHP:0000218
- 3 of 4 reported patients
- HypodontiaHPOHP:0000668
- 3 of 4 reported patients
- Lobulated tongueHPOHP:0000180
- 3 of 4 reported patients
- Low-set earsHPOHP:0000369
- 3 of 4 reported patients
- Narrow palateHPOHP:0000189
- 3 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 4 reported patients
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.
- SCNM1HGNC:23136
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · G2P · Autosomal recessive · 2023
Where it sits
- A kind of