Meier-Gorlin syndrome 6
MONDO:0014794Mondo
Findings
No curated finding names Meier-Gorlin syndrome 6 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 GMNN gene.
Definition from the Mondo Disease Ontology (MONDO:0014794), read 2026-09-29. CC BY 4.0.
Features
31 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.
- Delayed skeletal maturationHPOHP:0002750
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients
- Frontal bossingHPOHP:0002007
- 3 of 3 reported patients
- MicroretrognathiaHPOHP:0000308
- 3 of 3 reported patients
- MicrotiaHPOHP:0008551
- 3 of 3 reported patients
- Patellar aplasiaHPOHP:0006443
- 3 of 3 reported patients
- Severe short statureHPOHP:0003510
- 3 of 3 reported patients
- Small for gestational ageHPOHP:0001518
- 3 of 3 reported patients
- Thick vermilion borderHPOHP:0012471
- 3 of 3 reported patients
- Underdeveloped nasal alaeHPOHP:0000430
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 3 reported patients
Show the remaining 19
- Motor delayHPOHP:0001270
- 2 of 3 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 2 of 3 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 3 reported patients
- EmphysemaHPOHP:0002097
- 1 of 3 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 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.
- GMNNHGNC:17493
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
4 names
Resolves to: Meier-Gorlin syndrome 6
- Also called
- GMNN Meier-Gorlin syndromeMeier-Gorlin syndrome caused by mutation in GMNNMeier-Gorlin syndrome type 6MGORS6