Xp21 Microdeletion Syndrome

Description

Xp21 microdeletion syndrome is a rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.

Clinical Features

Top most frequent phenotypes and symptoms related to Xp21 Microdeletion Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Strabismus
  • Muscle weakness
  • Spasticity
  • Myopathy
  • Clinodactyly

And another 34 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

Xp21 Microdeletion Syndrome Is also known as xp21 contiguous gene deletion syndrome, glycerol kinase deficiency-contiguous gene syndrome, del(x)(p21), complex glycerol kinase deficiency.

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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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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