Galloway-mowat Syndrome 2, X-linked; Gamos2
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 ).
Genes related to Galloway-mowat Syndrome 2, X-linked; Gamos2
Clinical FeaturesTop most frequent phenotypes and symptoms related to Galloway-mowat Syndrome 2, X-linked; Gamos2
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Growth delay
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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.
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Galloway-mowat Syndrome 2, X-linked; Gamos2 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
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Sources and references
You can check the following sources for additional information.OMIM Rare Disease Search Engine