1. Mendelian
  2. Rare Diseases
  3. POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA

Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis; Pmgycha

Table of contents:

Genes related to Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis; Pmgycha

  • PI4KA

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis; Pmgycha

  • Micrognathia
  • Flexion contracture
  • Talipes equinovarus
  • Cerebellar hypoplasia
  • Dolichocephaly
  • Arthrogryposis multiplex congenita
  • Talipes
  • Polymicrogyria
  • Overlapping fingers
  • Cerebellar dysplasia

And another 2 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.

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.

Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis; Pmgycha Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis.

By Centogene AG - the Rare Disease Company (Germany).

PI4KA
Specificity
100 %
Genes
100 %
PI4KA.

By Fulgent Genetics Fulgent Genetics (United States).

PI4KA
Specificity
100 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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