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Microcephaly-deafness-intellectual disability syndrome

MONDO:0007991

Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.

Also known as: Kawashima-Tsuji syndrome, Kawashima Tsuji syndrome, microcephaly deafness syndrome, microcephaly-deafness syndrome, syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies, syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies

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