Linear Skin Defects With Multiple Congenital Anomalies 3; Lsdmca3

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.

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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.


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Linear Skin Defects With Multiple Congenital Anomalies 3; Lsdmca3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

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 %
Eye Diseases - panels.

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 %
Neurogenetic Disorders - panels.

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 %
NGS Panel for Congenital and Acquired Sideroblastic Anemia.

By BLOODGENETICS BLOODGENETICS (Spain).

SF3B1, SLC19A2, PUS1, LARS2, TRNT1, GLRX5, NDUFB11, YARS2, STEAP3, SLC25A38, ALAS2, ABCB7, HSPA9
Specificity
8 %
Genes
100 %

We have -4 more panels available in our App

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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 WOODHOUSE-SAKATI SYNDROME DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR CHUDLEY-MCCULLOUGH SYNDROME; CMCS NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4; MDDGB4 NEPHROTIC SYNDROME, TYPE 2; NPHS2

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