Microcephaly, Short Stature, And Limb Abnormalities; Missla
Description
MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).
Genes related to Microcephaly, Short Stature, And Limb Abnormalities; Missla
- DONSON
Clinical Features
Top most frequent phenotypes and symptoms related to Microcephaly, Short Stature, And Limb Abnormalities; Missla
- Intellectual disability
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
- Micrognathia
- Abnormal facial shape
- Brachydactyly
- Intrauterine growth retardation
- Intellectual disability, mild
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 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.Microcephaly, Short Stature, And Limb Abnormalities; Missla Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Microcephalic primordial dwarfism Comprehensive panel.
By Connective Tissue Gene Tests (United States).
XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Microcephalic primordial dwarfism Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Microcephalic primordial dwarfism NGS panel.
By Connective Tissue Gene Tests (United States).
XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
You can get up to -5 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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