Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

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Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

A rare syndromic intellectual disability characterized by hypotonia global developmental delay limited or absent speech intellectual disability macrocephaly mild dysmorphic features seizures and autism spectrum disorder. Associated ophthalmologic heart skeletal and central nervous system anomalies have been reported.

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 December 2023

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