chromosome 14q11-q22 deletion syndrome

info · Genetic

A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14.

Signs and symptoms

Reduced eye contact
Poor head control
Epicanthus
Inability to walk
Seizure
Narrow mouth
Short palpebral fissure
Deeply set eye
Optic atrophy
Spasticity

Also known as: 14q11.2 microdeletion syndrome