holoprosencephaly 9
MONDO:0012563Mondo
Findings
No curated finding names holoprosencephaly 9 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 GLI2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012563), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Sporadic · Typified by incomplete penetrance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
48 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.
- Hypoplasia of the maxillaHPOHP:0000327
- 20 of 20 reported patients
- Partial agenesis of the corpus callosumHPOHP:0001338
- 12 of 14 reported patients
- Dental malocclusionHPOHP:0000689
- 11 of 14 reported patients
- MacrotiaHPOHP:0000400
- 11 of 14 reported patients
- Malar flatteningHPOHP:0000272
- 11 of 14 reported patients
- HypotelorismHPOHP:0000601
- 16 of 25 reported patients
- Prominent foreheadHPO
Show the remaining 36
- Downturned corners of mouthHPOHP:0002714
- 1 of 4 reported patients
- EpicanthusHPOHP:0000286
- 1 of 4 reported patients
- Facial asymmetryHPOHP:0000324
- 1 of 4 reported patients
- Lateral ventricular asymmetryHPOHP:0100960
- 1 of 4 reported patients
- Occipital meningoceleHPOHP:0002436
- 1 of 4 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 1 of 4 reported patients
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.
- GLI2HGNC:4318
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
6 names
Resolves to: holoprosencephaly 9
- Also called
- GLI2 holoprosencephalyholoprosencephaly caused by mutation in GLI2holoprosencephaly type 9holoprosencephaly with microphthalmia and first branchial arch anomaliesHPE9pituitary anomalies with holoprosencephaly-like features