Linear Skin Defects With Multiple Congenital Anomalies 3; Lsdmca3
Genes related to Linear Skin Defects With Multiple Congenital Anomalies 3; Lsdmca3
- NDUFB11
Clinical Features
Top most frequent phenotypes and symptoms related to Linear Skin Defects With Multiple Congenital Anomalies 3; Lsdmca3
- Seizures
- Global developmental delay
- Generalized hypotonia
- Growth delay
- Nystagmus
- Failure to thrive
- Strabismus
- Muscular hypotonia
- Myopia
- Intrauterine growth retardation
And another 18 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.
Alternative names
Linear Skin Defects With Multiple Congenital Anomalies 3; Lsdmca3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies.
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.Linear Skin Defects With Multiple Congenital Anomalies 3; Lsdmca3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By PreventionGenetics PreventionGenetics (United States).
BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)
View the complete list with 154 more genes
Specificity
1 %
Genes
100 % |
![]() By MGZ Medical Genetics Center (Germany).
BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)
View the complete list with 146 more genes
Specificity
1 %
Genes
100 % |
![]() By MGZ Medical Genetics Center (Germany).
BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)
View the complete list with 572 more genes
Specificity
1 %
Genes
100 % |
![]() By BLOODGENETICS BLOODGENETICS (Spain).
SF3B1, SLC19A2, PUS1, LARS2, TRNT1, GLRX5, NDUFB11, YARS2, STEAP3, SLC25A38, ALAS2, ABCB7, HSPA9
Specificity
8 %
Genes
100 % |
You can get up to -4 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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