Chondrodysplasia Punctata 1, X-linked Recessive; Cdpx1

Clinical Features

Top most frequent phenotypes and symptoms related to Chondrodysplasia Punctata 1, X-linked Recessive; Cdpx1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge

And another 13 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

Chondrodysplasia Punctata 1, X-linked Recessive; Cdpx1 Is also known as chondrodysplasia punctata, brachytelephalangic, cpxr.

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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Chondrodysplasia Punctata 1, X-linked Recessive; Cdpx1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ARSE sequencing.

By Genetic Services Laboratory University of Chicago (United States).

ARSE
Specificity
100 %
Genes
100 %
ARSE deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

ARSE
Specificity
100 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
ARSE Gene Sequencing.

By GeneDx (United States).

ARSE
Specificity
100 %
Genes
100 %
ARSE. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ARSE
Specificity
100 %
Genes
100 %
Chondrodysplasia punctata, brachytelephalangic, X-linked (sequence analysis of ARSE gene).

By CGC Genetics (Portugal).

ARSE
Specificity
100 %
Genes
100 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics (Portugal).

RMRP, SLC26A2, SOX9, TRIP11, NSDHL, TRPV4, P3H1, SBDS, SLC35D1, COL10A1, COL11A1, COL11A2, COL1A2, CRTAP, DDR2, EBP, FGFR3, FLNB, ALPL, HSPG2 , (...)

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

We have 38 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

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1; VAMAS1 HEMIHYPERPLASIA, ISOLATED; IH MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38; MRT38 AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4 WIEDEMANN-STEINER SYNDROME; WDSTS FRYNS SYNDROME; FRNS THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

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