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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADSS2, AHCTF1
+31 more
Copy number loss
Global developmental delay
+5 more
GPathogenic
BRD8, CDC23
+13 more
Copy number loss
Neurodevelopmental delay
+1 more
GPathogenic
AASS, ANKRD7
+35 more
Copy number loss
Global developmental delay
+2 more
GPathogenic
AKAP3, CCND2
+14 more
Copy number loss
Global developmental delay
+1 more
GPathogenic
CASK, GPR34
+1 more
Copy number loss
Neurodevelopmental delay
+1 more
GPathogenic
CASK, GPR34
+4 more
Copy number loss
Global developmental delay
+1 more
GPathogenic
Copy number loss
Lissencephaly
+3 more
GPathogenic
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