Condition: MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
rs763915472
in
KNL1
gene and
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
PMID 26626498
2016 Refining the phenotype associated with CASC5 mutation.
PMID 22983954
2012 Kinetochore KMN network gene CASC5 mutated in primary microcephaly.