Meier-Gorlin syndrome 3
MONDO:0013430Mondo
Findings
No curated finding names Meier-Gorlin syndrome 3 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 ORC6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013430), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
14 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
- 2 of 2 reported patients
- Breast hypoplasiaHPOHP:0003187
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients
- Hypoplasia of the maxillaHPOHP:0000327
- 3 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- MicrotiaHPOHP:0008551
- 3 of 3 reported patients
- Slender long boneHPOHP:0003100
Show the remaining 2
- Narrow mouthHPOHP:0000160
- 1 of 3 reported patients
- Patellar hypoplasiaHPOHP:0003065
- 1 of 3 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.
- ORC6HGNC:17151
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Meier-Gorlin syndrome 3
- Also called
- Meier-Gorlin syndrome caused by mutation in ORC6Meier-Gorlin syndrome type 3ORC6 Meier-Gorlin syndrome