Meier-Gorlin syndrome 1
MONDO:0009143Mondo
Findings
No curated finding names Meier-Gorlin syndrome 1 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 ORC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009143), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · 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.
- Breast hypoplasiaHPOHP:0003187
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 2 of 2 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 2 reported patients
- Low-set earsHPOHP:0000369
- 4 of 4 reported patients
- MicrotiaHPOHP:0008551
- 4 of 4 reported patients
- Patellar aplasiaHPOHP:0006443
- 3 of 3 reported patients
- Slender long boneHPOHP:0003100
Show the remaining 2
- EmphysemaHPOHP:0002097
- 1 of 3 reported patients · Congenital onset
- MicropenisHPOHP:0000054
- 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.
- ORC1HGNC:8487
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Meier-Gorlin syndrome 1
- Also called
- Meier-Gorlin syndrome caused by mutation in ORC1Meier-Gorlin syndrome type 1ORC1 Meier-Gorlin syndrome