Xq25 Duplication Syndrome


Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

Incidence and onset information

Not enough data available about incidence and published cases.

Xq25 Duplication Syndrome Common symptoms

Top most frequent phenotypes related to Xq25 Duplication Syndrome

  • Sparse eyebrow
  • Facial hypotonia
  • Thick vermilion border
  • Sleep disturbance
  • Hyperactivity
  • Highly arched eyebrow
  • Thick eyebrow
  • Anxiety
  • X-linked inheritance
  • Cerebellar hypoplasia
  • Mandibular prognathia
  • Hypoplasia of the corpus callosum
  • Malar flattening
  • Delayed speech and language development
  • Epicanthus
View the complete list of symptoms

Genes related to Xq25 Duplication Syndrome

  • DUPXq25



Other rare diseases that you may find interesting