U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIL1
Deletion
Global developmental delay
+8 more
GPathogenic
EBF3
(E94fs)
Deletion
(frameshift variant)
Generalized hypotonia
+7 more
GPathogenic