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Microcephaly-lymphoedema-chorioretinal dysplasia (MIM 152950) has been described as a distinct clinical entity. The mode of inheritance is uncertain, but male to male transmission has been observed(More)
Craniofrontonasal syndrome (CFNS, MIM 304110) is an X-linked craniofacial disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Mutations have been(More)