Microcephaly 16, Primary, Autosomal Recessive; Mcph16

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephaly 16, Primary, Autosomal Recessive; Mcph16

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia
  • Cryptorchidism
  • Spasticity
  • Ptosis
  • Anemia
  • Flexion contracture

And another 15 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.


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Microcephaly 16, Primary, Autosomal Recessive; Mcph16 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ANKLE2.

By Fulgent Genetics Fulgent Genetics (United States).

ANKLE2
Specificity
100 %
Genes
100 %
Microcephaly primary autosomal recessive.

By Laboratorio de Genetica Clinica SL (Spain).

STIL, CENPJ, CDK6, CDK5RAP2, ASPM, CIT, KNL1, WDR62, SASS6, CEP63, MFSD2A, CEP135, ANKLE2, CEP152, PHC1, MCPH1
Specificity
7 %
Genes
100 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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