Galloway-mowat Syndrome 4; Gamos4

Description

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Galloway-mowat Syndrome 4; Gamos4

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Spasticity
  • Feeding difficulties

And another 14 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 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
Specificity
3 %
Genes
100 %
TP53RK.

By Fulgent Genetics Fulgent Genetics (United States).

TP53RK
Specificity
100 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

Learn 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 SPINOCEREBELLAR ATAXIA 27; SCA27 ATAXIA-PANCYTOPENIA SYNDROME; ATXPC ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9 BOWEN-CONRADI SYNDROME; BWCNS OPTIC ATROPHY 11; OPA11