Condition: Sloping forehead


rs1064795945 in ASPM gene and Sloping forehead PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

rs867410737 in ATP5F1D gene and Sloping forehead PMID 29478781 2018 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

rs1064796738 in KIF11 gene and Sloping forehead PMID 25124931 2014 Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

PMID 25115524 2014 Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.