Microcephaly-deafness-intellectual disability syndrome

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Microcephaly-deafness-intellectual disability syndrome

Synonyms: Kawashima-Tsuji syndrome | Microcephaly-hearing loss-intellectual disability syndrome

Microcephaly-deafness-intellectual disability syndrome is characterised 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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