Microdeletions at 19p13 can have a variety of clinical findings depending on the location and extent of the deletion.
Patient selection: microdeletion in 19p13
Subtypes: 19p13.2, 19p13.3, 19p13.12, others
Clinical findings:
(1) developmental delay with intellectual disability
(2) behavioral problems (aggression, self-injury, repetitive, other)
(3) microcephaly
(4) hypertrichosis
(5) hypotonia
(6) variable short stature
(7) variable branchial arch defects
Facial dysmorphism:
(1) rounded face with prominent cheeks
(2) synophrys
(3) arched eyebrows
(4) short nose with anteverted nares
(5) dental abnormalities
(6) ear abnormalities
(7) eye abnormalities
