Xq25 Duplication Syndrome

Description

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).

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Clinical Features

Top most frequent phenotypes and symptoms related to Xq25 Duplication Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Abnormal facial shape
  • Epicanthus
  • Delayed speech and language development
  • Frontal bossing
View the complete list of symptoms

Incidence and onset information

Not enough data available about incidence and published cases.


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