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

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