askvity

What disease is CK?

Published in Genetic Disorders 1 min read

CK syndrome is a specific, rare genetic disorder. The following information details what CK syndrome entails:

Understanding CK Syndrome

According to available information, CK syndrome is:

  • A rare, genetic, X-linked syndromic intellectual disability disorder. This means it's a condition caused by a gene mutation on the X chromosome, leading to a range of symptoms.

Key Characteristics of CK Syndrome:

  • Intellectual Disability: From mild to severe impairment.
  • Infancy-Onset Seizures: Seizures begin in infancy.
  • Post-Natal Microcephaly: Head size is smaller than normal after birth.
  • Cerebral Cortical Malformations: Abnormalities in the brain's outer layer.
  • Dysmorphic Facial Features: Distinctive facial characteristics such as a long, narrow face and almond-shaped eyes.

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