GMNN gene related symptoms and diseases
All the information presented here about the GMNN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GMNN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Intrauterine growth retardation | Very Common - Between 80% and 100% cases |
| Small for gestational age | Very Common - Between 80% and 100% cases |
| Microtia | Very Common - Between 80% and 100% cases |
| High forehead | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GMNN gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Gastroesophageal reflux
- Posteriorly rotated ears
- Severe short stature
- Delayed skeletal maturation
- Hernia
- Global developmental delay
- Patellar aplasia
- Frontal bossing
And 135 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GMNN gene
Here you will find a list of rare diseases related to the GMNN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EAR-PATELLA-SHORT STATURE SYNDROME
Alternate names
EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome, meier-gorlin syndrome, eps, ear, patella, short stature syndrome
Description
Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
Most common symptoms of EAR-PATELLA-SHORT STATURE SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about EAR-PATELLA-SHORT STATURE SYNDROME
MEIER-GORLIN SYNDROME 6; MGORS6
Most common symptoms of MEIER-GORLIN SYNDROME 6; MGORS6
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Failure to thrive
- Micrognathia
More info about MEIER-GORLIN SYNDROME 6; MGORS6
SOURCES: OMIM
Search interest in GMNN
Potential gene panels for GMNN gene
Meier-Gorlin Syndrome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Meier-Gorlin Syndrome Panel that also includes the following genes: ORC6 CDC6 GMNN CDT1 ORC1 ORC4
More info about this panel United States.
Comprehensive Primordial Dwarfism Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2
More info about this panel United States.
Microcephalic primordial dwarfism Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Comprehensive panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Microcephalic primordial dwarfism Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism Deletion / Duplication panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Meier-Gorlin syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Meier-Gorlin syndrome NGS panel that also includes the following genes: ORC6 CDC45 CDC6 GMNN CDT1 MCM5 ORC1 ORC4
More info about this panel United States.
Microcephalic primordial dwarfism NGS panel Panel
United States.
By Connective Tissue Gene Tests Microcephalic primordial dwarfism NGS panel that also includes the following genes: XRCC4 NIN PCNT ORC6 CENPJ CDC45 CDC6 GMNN CDT1 CEP63
More info about this panel United States.
Meier-Gorlin syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Meier-Gorlin syndrome Comprehensive panel that also includes the following genes: ORC6 CDC45 CDC6 GMNN CDT1 MCM5 ORC1 ORC4
More info about this panel United States.
Meier-Gorlin syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Meier-Gorlin syndrome Deletion / Duplication panel that also includes the following genes: ORC6 CDC45 CDC6 GMNN CDT1 MCM5 ORC1 ORC4
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
GMNN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GMNN gene.
More info about this panel United States.
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