microphthalmia with brain and digit anomalies
Findings
No curated finding names microphthalmia with brain and digit anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
Definition from the Mondo Disease Ontology (MONDO:0011936), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
59 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.
- AnophthalmiaHPOHP:0000528
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Chorioretinal colobomaHPOHP:0000567
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Iris colobomaHPOHP:0000612
- Frequent (30% to 79% of cases)
- MicrocorneaHPO
Show the remaining 47
- Inferior cerebellar vermis hypoplasiaHPOHP:0007068
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- MyopiaHPOHP:0000545
- Occasional (5% to 29% of cases)
- Nail dysplasiaHPOHP:0002164
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
- Postaxial foot polydactylyHPOHP:0001830
- Occasional (5% to 29% 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.
- BMP4HGNC:1071
- Definitive · G2P · Autosomal dominant · 2020
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Laboratory for Molecular Medicine · Autosomal dominant · 2020
Where it sits
Other names
4 names
Resolves to: microphthalmia with brain and digit anomalies
- Also called
- Bakrania-Ragge syndromeMCOPS6microphthalmia, syndromic type 6syndromic microphthalmia type 6