Microdeletions at 1q41q42 can result in a number of phenotypic findings in affected patients.
Affected genes may include: FBXO28. WDR26, TP53BP2, DISP1
(1) intellectual disability
(3) brain malformations
(5) short stature
(6) variable diaphragmatic hernia
(7) variable cleft lip and/or palate
Some patients with severe findings may be included in Fryns Syndrome.
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