holoprosencephaly 11
MONDO:0013642Mondo
Findings
No curated finding names holoprosencephaly 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.
Definition from the Mondo Disease Ontology (MONDO:0013642), 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.
- Agenesis of corpus callosumHPOHP:0001274
- Global developmental delayHPOHP:0001263
- HoloprosencephalyHPOHP:0001360
- HypotelorismHPOHP:0000601
- MicrocephalyHPOHP:0000252
- SynophrysHPOHP:0000664
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.
- CDONHGNC:17104
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Moderate · Illumina · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
4 names
Resolves to: holoprosencephaly 11
- Also called
- CDON holoprosencephalyholoprosencephaly caused by mutation in CDONholoprosencephaly type 11HPE11