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Microcephaly-deafness-intellectual disability syndrome
rareMicrocephaly-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.
- Identifiers
- MONDO:0007991 OMIM:156620Orphanet:2533
- Also known as
- Kawashima Tsuji syndrome · Kawashima-Tsuji 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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