Mosaic Variegated Aneuploidy Syndrome 3; Mva3
Description
MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017).For a discussion of genetic heterogeneity of MVA, see MVA1 (OMIM ).
Clinical Features
Top most frequent phenotypes and symptoms related to Mosaic Variegated Aneuploidy Syndrome 3; Mva3
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
- Nystagmus
- Neoplasm
- Abnormality of the nervous system
- Leukemia
- Severe global developmental delay
And another 5 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.Mosaic Variegated Aneuploidy Syndrome 3; Mva3 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
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Specificity
2 %
Genes
100 % |
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Specificity
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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 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY; SCOTD DYSTONIA 27; DYT27 AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51