Meier-Gorlin syndrome 2
MONDO:0013428Mondo
Findings
No curated finding names Meier-Gorlin syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.
Definition from the Mondo Disease Ontology (MONDO:0013428), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
10 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.
- Birth length less than 3rd percentileHPOHP:0003561
- 1 of 1 reported patient
- Breast hypoplasiaHPOHP:0003187
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients · Infantile onset
- MicrotiaHPOHP:0008551
- 3 of 3 reported patients
- Narrow mouthHPOHP:0000160
- 2 of 2 reported patients
- Short statureHPO
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.
- ORC4HGNC:8490
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Moderate · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Meier-Gorlin syndrome 2
- Also called
- Meier-Gorlin syndrome caused by mutation in ORC4Meier-Gorlin syndrome type 2ORC4 Meier-Gorlin syndrome