Condition: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
rs769677823
in
HERC1
gene and
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
PMID 26138117
2015 Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.