holoprosencephaly 3
MONDO:0007733Mondo
Findings
No curated finding names holoprosencephaly 3 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 SHH gene.
Definition from the Mondo Disease Ontology (MONDO:0007733), read 2026-09-29. CC BY 4.0.
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 · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2015
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (1)
Other names
5 names
Resolves to: holoprosencephaly 3
- Also called
- HLP3holoprosencephaly caused by mutation in SHHholoprosencephaly type 3HPE3SHH holoprosencephaly