U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRIO
(A253fs)
Duplication
(frameshift variant +1 more)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
GLikely pathogenic
TRIO
(R1428Q)
Single nucleotide variant
(missense variant +1 more)
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
+2 more
GPathogenic
TRIO
(V2351fs)
Deletion
(frameshift variant +1 more)
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
+1 more
GLikely pathogenic
Format
Sort by
Choose Destination