orofaciodigital syndrome 17
MONDO:0033375Mondo
Findings
No curated finding names orofaciodigital syndrome 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Central Y-shaped metacarpalHPOHP:0006145
- 1 of 1 reported patient · Congenital onset
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient · Congenital onset
- Clubbing of fingersHPOHP:0100759
- 1 of 1 reported patient · Congenital onset
- CNS hypomyelinationHPOHP:0003429
- 1 of 1 reported patient · Congenital onset
- Decreased body weightHPOHP:0004325
- 1 of 1 reported patient · Congenital onset
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient · Congenital onset
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient · Congenital onset
- High, narrow palateHPOHP:0002705
- 1 of 1 reported patient · Congenital onset
- Inverted nipplesHPOHP:0003186
- 1 of 1 reported patient · Congenital onset
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient · Congenital onset
- Median cleft upper lipHPOHP:0000161
- 1 of 1 reported patient · Congenital onset
- MicropenisHPOHP:0000054
- 1 of 1 reported patient · Congenital onset · Male
Show the remaining 11
- Partial duplication of thumb phalanxHPOHP:0009944
- 1 of 1 reported patient · Congenital onset
- PolydactylyHPOHP:0010442
- 1 of 1 reported patient · Congenital onset
- Prominent metopic ridgeHPOHP:0005487
- 1 of 1 reported patient · Congenital onset
- Prominent noseHPOHP:0000448
- 1 of 1 reported patient · Congenital onset
- Renal hypoplasiaHPOHP:0000089
- 1 of 1 reported patient · Congenital onset
- RetrognathiaHPOHP:0000278
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.
- INTUHGNC:29239
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
3 names
Resolves to: orofaciodigital syndrome 17
- Also called
- OFD17OFDS XVIIoral-facial-digital syndrome, type XVII