orofaciodigital syndrome 16
MONDO:0033045Mondo
Findings
No curated finding names orofaciodigital syndrome 16 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
10 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.
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Postaxial foot polydactylyHPOHP:0001830
- 1 of 1 reported patient
- Postaxial hand polydactylyHPOHP:0001162
- 1 of 1 reported patient
- RetrognathiaHPOHP:0000278
- 1 of 1 reported patient
- Short palpebral fissureHPOHP:0012745
- 1 of 1 reported patient
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.
- TMEM107HGNC:28128
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of