microphthalmia, isolated, with coloboma 5
Findings
No curated finding names microphthalmia, isolated, with coloboma 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.
Definition from the Mondo Disease Ontology (MONDO:0012709), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Iris colobomaHPOHP:0000612
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Frequent (30% to 79% of cases)
- AnophthalmiaHPOHP:0000528
- Occasional (5% to 29% of cases)
- HoloprosencephalyHPOHP:0001360
- Occasional (5% to 29% of cases)
- Orofacial cleftHPOHP:0000202
- Occasional (5% to 29% of cases)
- Chorioretinal colobomaHPOHP:0000567
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.
- SHHHGNC:10848
- Definitive · G2P · Autosomal dominant · 2018
Where it sits
Other names
4 names
Resolves to: microphthalmia, isolated, with coloboma 5
- Also called
- microphthalmia with coloboma 5microphthalmia, isolated, with coloboma caused by mutation in SHHmicrophthalmia, isolated, with coloboma type 5SHH microphthalmia, isolated, with coloboma