Autosomal Recessive Cutis Laxa Type 2, Classic Type

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Cutis Laxa Type 2, Classic Type

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Spasticity
  • Low-set ears
  • High palate
  • Feeding difficulties

And another 47 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

Autosomal Recessive Cutis Laxa Type 2, Classic Type Is also known as arcl2, classic type, arcl2, debrÉ type, autosomal recessive cutis laxa type 2, debrÉ type.

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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Autosomal Recessive Cutis Laxa Type 2, Classic Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)

View the complete list with 24 more genes
Specificity
7 %
Genes
100 %
Cutis laxa Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, ATP6V1A, ATP6V1E1, PYCR1, ALDH18A1
Specificity
34 %
Genes
100 %
Cutis laxa NGS panel.

By Connective Tissue Gene Tests (United States).

ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, ATP6V1A, ATP6V1E1, PYCR1, ALDH18A1
Specificity
34 %
Genes
100 %
Cutis laxa Comprehensive panel.

By Connective Tissue Gene Tests (United States).

ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, ATP6V1A, ATP6V1E1, PYCR1, ALDH18A1
Specificity
34 %
Genes
100 %
ATP6V1A.

By Fulgent Genetics Fulgent Genetics (United States).

ATP6V1A
Specificity
100 %
Genes
34 %
ATP6V1E1.

By Fulgent Genetics Fulgent Genetics (United States).

ATP6V1E1
Specificity
100 %
Genes
34 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
34 %
Congenital Disorders of Glycosylation Panel.

By Baylor Miraca Genetics Laboratories (United States).

SLC35A1, ALG9, ALG1, ATP6V0A2, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DPAGT1, DPM1, DPM3, RFT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
34 %

We have 65 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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