MECP2 Disorders: Included Phenotypes 1, 2
Females
  • MECP2 classic Rett syndrome
  • Variant Rett syndrome
  • Mild learning disabilities
Males
  • MECP2-related severe neonatal encephalopathy
  • Pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome
  • Syndromic/nonsyndromic intellectual disability
1.

For other genetic causes of these phenotypes see Differential Diagnosis.

2.

Note: The allelic disorder MECP2 duplication syndrome is not included in this GeneReview. See Genetically Related Disorders.

From: MECP2 Disorders

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