Variant: rs1569102786 

    present in Gene: OFD1
    present in Chromosome: X
    Position on Chromosome: 13736679
    Alleles of this Variant: G/T

rs1569102786 in OFD1 gene and Familial aplasia of the vermis PMID 16783569 2006 A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

PMID 27081566 2016 Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

PMID 18546297 2008 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.