Condition: Optic atrophy, intellectual disability syndrome


rs587777276 in NR2F1 gene and Optic atrophy, intellectual disability syndrome PMID 24462372 2014 NR2F1 mutations cause optic atrophy with intellectual disability.

rs587777274 in NR2F1-AS1;NR2F1 gene and Optic atrophy, intellectual disability syndrome PMID 24462372 2014 NR2F1 mutations cause optic atrophy with intellectual disability.

PMID 26986877 2016 The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

rs587777277 in NR2F1;NR2F1-AS1 gene and Optic atrophy, intellectual disability syndrome PMID 24462372 2014 NR2F1 mutations cause optic atrophy with intellectual disability.