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Families with recessive congenital progressive microcephaly with prenatal perithalamic hyperechogenicity and hypothalamus-midbrain dysplasia. Genotypes of PCDH12 c.2515 C>T, p.R839X, are indicated below each sampled individual. PCDH12 c.2515C>T is homozygous in all affected individuals and segregates as expected for a recessive disease in all 4 families. TOP = termination of pregnancy.
