present in Gene: HERC1
present in Chromosome: 15
Position on Chromosome: 63696341
Alleles of this Variant: T/G
rs797045141 in
HERC1 gene and
Exophthalmos
PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
rs797045141 in
HERC1 gene and
Orbital separation excessive
PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
rs797045141 in
HERC1 gene and
Poor school performance
PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
rs797045141 in
HERC1 gene and
Relative macrocephaly
PMID 27108999 2016 A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.