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
NR4A2
(Q253R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance
NR4A2
(K225T +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic