chromosome 19p13.13 deletion syndrome

info · Genetic

A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity.

Signs and symptoms

Diarrhea
Microcephaly
Sloping forehead
Downslanted palpebral fissures
Strabismus
Delayed speech and language development
Vomiting
Feeding difficulties
Seizure
Global developmental delay