Linear Skin Defects With Multiple Congenital Anomalies 2; Lsdmca2

Clinical Features

Top most frequent phenotypes and symptoms related to Linear Skin Defects With Multiple Congenital Anomalies 2; Lsdmca2

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape
  • Visual impairment
  • Hypertension
  • Myopia
  • Talipes equinovarus

And another 28 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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 2; Lsdmca2 Is also known as aplcc, aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, 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 2; Lsdmca2 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 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH (Germany).

RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD , (...)

View the complete list with 260 more genes
Specificity
1 %
Genes
100 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory (United States).

BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
COX7B.

By Fulgent Genetics Fulgent Genetics (United States).

COX7B
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).

RP2, RPGR, RPL10, RPS6KA3, RS1, SAT1, SH2D1A, SHOX, SLC16A2, SLC35A2, SLC6A14, SLC6A8, SLC9A6, KDM5C, SMPX, SMS, SOX3, SRY, BTK, CDKL5 , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics (Finland).

BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TFAP2A, ZIC2, PXDN, RAB3GAP1, ADAMTS18, MFRP, RAX, NAA10, GRIP1, FRAS1, VSX2, SMOC1, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

SALL1, SALL2, BMP4, SHH, SIX6, SOX2, PXDN, MFRP, RAX, NAA10, VSX2, SMOC1, BCOR, COX7B, CRYBA4, C12orf57, TENM3, STRA6, PRSS56, ALDH1A3 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %

We have -1 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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