Lissencephaly type 3-metacarpal bone dysplasia syndrome

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Lissencephaly type 3-metacarpal bone dysplasia syndrome

A rare syndromic form of lissencephaly characterized by severe microcephaly agyria agenesis of the corpus callosum cerebellar hypoplasia facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence.

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: // Data version September 2023.

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