Galloway-mowat Syndrome 4; Gamos4
Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, 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 4; Gamos4
Clinical FeaturesTop most frequent phenotypes and symptoms related to Galloway-mowat Syndrome 4; Gamos4
- Global developmental delay
- Short stature
- Generalized hypotonia
- Abnormal facial shape
- Feeding difficulties
And another 14 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 researchersCurrently, 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 4; Gamos4 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
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -6 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Search Engine
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STARGARDT DISEASE SEBASTIAN SYNDROME; SBS GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL; GHDP ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9 BRACHYDACTYLY, TYPE E1; BDE1 OROFACIAL CLEFT 15; OFC15