Congenital Disorder Of Glycosylation, Type Iw; Cdg1w

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Disorder Of Glycosylation, Type Iw; Cdg1w

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Cryptorchidism
  • Feeding difficulties
  • Intrauterine growth retardation
  • Optic atrophy

And another 6 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

Congenital Disorder Of Glycosylation, Type Iw; Cdg1w Is also known as cdgiw, cdg iw.

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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Congenital Disorder Of Glycosylation, Type Iw; Cdg1w Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital disorders of glycosylation (NGS panel for 39 genes).

By CGC Genetics (Portugal).

SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, ALG1, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, MOGS, SRD5A3 , (...)

View the complete list with 19 more genes
Specificity
6 %
Genes
100 %
Osteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene).

By CGC Genetics (Portugal).

SSR4, NGLY1, STT3B, STT3A
Specificity
50 %
Genes
100 %
Congenital disorder of glycosylation type Ix (sequence analysis of STT3B gene).

By CGC Genetics (Portugal).

STT3B
Specificity
100 %
Genes
50 %
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, TMEM199, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, SLC39A8, GMPPA, ALG3, ALG6 , (...)

View the complete list with 30 more genes
Specificity
4 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation (CDG).

By MGZ Medical Genetics Center (Germany).

SLC35A1, SLC35A2, SSR4, COG5, ALG9, ALG1, COG4, COG6, COG7, COG8, ALG12, SLC35C1, DHDDS, GMPPA, ALG3, ALG6, ALG8, DOLK, MOGS, SRD5A3 , (...)

View the complete list with 18 more genes
Specificity
6 %
Genes
100 %
Congenital Disorders of Glycosylation Panel.

By Blueprint Genetics (Finland).

SEC23B, SLC35A1, SLC35A2, SSR4, COG5, ALG9, NGLY1, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, B3GLCT, DHDDS, GMPPA, ALG3, ALG6 , (...)

View the complete list with 27 more genes
Specificity
5 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics (Finland).

BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2 , (...)

View the complete list with 411 more genes
Specificity
1 %
Genes
100 %

We have 3 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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