Conditions / Syndrome

Seckel syndrome 1

info · Syndrome

A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.

Signs and symptoms

  • Strabismus
  • Seizure
  • Abnormally large globe
  • Single transverse palmar crease
  • Dental crowding
  • Proportionate short stature
  • Large basal ganglia
  • Postnatal growth retardation
  • 11 pairs of ribs
  • Hyperactivity

Also known as: SCKL1; microcephalic primordial dwarfism I