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N Sreedevi1, N Swapna2, Santosh Maruthy1

  • 1Department of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, Karnataka, India.

Global Medical Genetics
|June 5, 2023
PubMed
Summary
This summary is machine-generated.

Congenital disorder of glycosylation (CDG) is a rare genetic condition. Whole-exome sequencing confirmed a PMM2 gene variant in a patient with developmental delays and neurological symptoms.

Keywords:
PMM2 -CDGSouth Indiacerebral palsymutation

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Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Congenital disorder of glycosylation (CDG) is an autosomal recessive condition.
  • Key symptoms include hypotonia, developmental delay, and neurological abnormalities.
  • Early diagnosis is crucial for managing CDG's complex manifestations.