Galloway-mowat Syndrome 3; Gamos3
Description
Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Galloway-mowat Syndrome 3; Gamos3
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Growth delay
- Hypertelorism
- Nystagmus
And another 52 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Galloway-mowat Syndrome 3; Gamos3 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3 , (...)
View the complete list with 29 more genes
Specificity
3 %
Genes
100 % |
|
OSGEP.
By Fulgent Genetics Fulgent Genetics (United States).
OSGEP
Specificity
100 %
Genes
100 % |
You can get up to -6 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SENIOR-LOKEN SYNDROME 9; SLSN9 ERYTHROCYTOSIS, FAMILIAL, 1; ECYT1 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36; EIEE36