Microdeletions at 3q29 may be associated with a number of clinical findings.

Genes that may be affected: DLG1, FBXO45, PAK2, and RNF168


Inheritance: autosomal dominant


Clinical features:

(1) developmental and/or intellectual disability

(2) speech delay

(3) autism spectrum disorder, other psychiatric disorders

(4) failure to thrive

(5) feeding problems

(6) cardiac malformations (patent ductus arteriosus, VSD, other)

(7) gastrointestinal disorders (constipation, diarrhea, GERD, dysphagia)

(8) dental abnormalities (dental caries, abnormal spacing, abnormal size, etc)

(9) variable hypotonia


Facial appearance:

(1) long, narrow face

(2) short philtrum

(3) high nasal bridge

(4) large ears

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