From: Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations
Gene symbol
OMIM ID
Associated diseases
Inheritance
IRF4
601,900
[Skin/hair/eye pigmentation, variation in, 8]
–
EXOC2
615,329
Neurodevelopmental disorder with dysmorphicfacies and cerebellar hypoplasia
AR