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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLP1, RAB9B
(C35Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
AKAP14, CCDC22
+733 more
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic