lacrimoauriculodentodigital syndrome 2
MONDO:0859577Mondo
Findings
No curated finding names lacrimoauriculodentodigital syndrome 2 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
14 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.
- Absent lacrimal punctumHPOHP:0001092
- 2 of 2 reported patients
- AlacrimaHPOHP:0000522
- 3 of 3 reported patients
- Carious teethHPOHP:0000670
- 3 of 3 reported patients
- Conical toothHPOHP:0000698
- 3 of 3 reported patients
- ConjunctivitisHPOHP:0000509
- 5 of 5 reported patients
- Cupped earHPOHP:0000378
- 5 of 5 reported patients
- Duplication of thumb phalanxHPOHP:0009942
- 2 of 2 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 3 reported patients
- Lacrimal duct aplasiaHPOHP:0007925
- 2 of 2 reported patients
- Lacrimal duct atresiaHPOHP:0000564
- 2 of 2 reported patients
- MicrotiaHPOHP:0008551
- 5 of 5 reported patients
- HypodontiaHPOHP:0000668
- 4 of 5 reported patients
Show the remaining 2
- MicrodontiaHPOHP:0000691
- 4 of 5 reported patients
- Abnormal thumb morphologyHPOHP:0001172
- 0 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.
- FGFR3HGNC:3690
- Definitive · G2P · Autosomal dominant · 2024
Where it sits
- A kind of