ectodermal dysplasia 17 with or without limb malformations
MONDO:0979228Mondo
Findings
No curated finding names ectodermal dysplasia 17 with or without limb malformations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
55 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.
- 1-2 toe syndactylyHPOHP:0010711
- 1 of 1 reported patient
- 2-4 toe syndactylyHPOHP:0010714
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Delayed eruption of teethHPOHP:0000684
- 1 of 1 reported patient
- MicrodontiaHPOHP:0000691
- 1 of 1 reported patient
- Preaxial hand polydactylyHPOHP:0001177
- 1 of 1 reported patient
- Ridged nailHPOHP:0001807
- 1 of 1 reported patient
- TaurodontiaHPOHP:0000679
- 1 of 1 reported patient
- 3-4 finger osseus syndactylyHPOHP:0006097
- 2 of 3 reported patients
- Sparse eyebrowHPOHP:0045075
- 6 of 12 reported patients
- Sparse eyelashesHPOHP:0000653
- 2 of 4 reported patients
- Hypoplastic nipplesHPOHP:0002557
- 4 of 10 reported patients
Show the remaining 43
- Dry skinHPOHP:0000958
- 5 of 13 reported patients
- Short thumbHPOHP:0009778
- 4 of 11 reported patients
- OligodontiaHPOHP:0000677
- 5 of 14 reported patients
- Short statureHPOHP:0004322
- 1 of 3 reported patients
- Small thenar eminenceHPOHP:0001245
- 4 of 12 reported patients
- Sparse body hairHPOHP:0002231
- 1 of 3 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.
- LEF1HGNC:6551
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of