chromosome 13q14 deletion syndrome

A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13.

Signs and symptoms

• Absent septum pellucidum
• Hearing impairment
• Inguinal hernia
• Retinoblastoma
• Agenesis of corpus callosum
• Ventricular septal defect
• Overlapping toe
• Single transverse palmar crease
• Iris coloboma
• High palate

Also known as: deletion 13q14