present in Gene: CDON
present in Chromosome: 11
Position on Chromosome: 126001806
Alleles of this Variant: C/A;T
rs139323558 in
CDON gene and
HOLOPROSENCEPHALY 11
PMID 21802063 2011 Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.