microphthalmia, syndromic 2
MONDO:0010261Mondo
Findings
No curated finding names microphthalmia, syndromic 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
62 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.
- Contracture of the proximal interphalangeal joint of the 2nd toeHPOHP:0100348
- 3 of 3 reported patients
- Contracture of the proximal interphalangeal joint of the 3rd toeHPOHP:0100349
- 3 of 3 reported patients
- Delayed eruption of teethHPOHP:0000684
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Developmental cataractHPOHP:0000519
- 10 of 11 reported patients
- 3 of 3 reported patients · Congenital onset
- Long philtrumHPOHP:0000343
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- MicrophthalmiaHPOHP:0000568
- 9 of 11 reported patients
- 3 of 3 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- Persistence of primary teethHPOHP:0006335
- 8 of 8 reported patients
- Abnormal cardiac septum morphologyHPOHP:0001671
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Bifid nasal tipHPOHP:0000456
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- MicrocorneaHPOHP:0000482
- Very frequent (80% to 99% of cases)
Show the remaining 50
- Prominent nasal bridgeHPOHP:0000426
- 8 of 11 reported patients
- Frequent (30% to 79% of cases)
- RadiculomegalyHPOHP:0033189
- 8 of 11 reported patients
- Broad nasal tipHPOHP:0000455
- 10 of 14 reported patients
- Bifid uvulaHPOHP:0000193
- 2 of 3 reported patients
- Broad halluxHPOHP:0010055
- 2 of 3 reported patients
- OligodontiaHPOHP:0000677
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
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.
- BCORHGNC:20893
- Definitive · ClinGen · X-linked · 2020
- Definitive · Illumina · X-linked · 2020
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
- Limited · Ambry Genetics · X-linked · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of
Other names
6 names
Resolves to: microphthalmia, syndromic 2
- Also called
- cataract-microphthalmia-radiculomegaly-cardiac septal defect syndromemicrophthalmia syndromic 2microphthalmia, syndromic 2, X-linked dominantmicrophthalmia, syndromic type 2oculofaciocardiodental syndromeOFCD syndrome