ARL14EP

Clinical Characteristics

The clinical features of this disease include:

  • Global developmental delay
  • Intellectual disability
  • Tall stature
  • Scoliosis or kyphosis
  • Microcephaly
  • Truncal obesity
  • Dysmorphic facies:
    • Deep-set eyes
    • Synophrys
    • Bulbous nose
    • Prominent cheeks
  • Short stature (one patient)
  • Hypothyroidism (one patient)