AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

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Synonyms: Xia-Gibbs syndrome

A rare syndromic intellectual disability characterized by hypotonia developmetal delay absent or severly delayed speech development intellectual disability obstructive sleep apnea mild dysmorphic facial features and behavioral abnormalities. Epilepsy ataxia and nystagmus have also 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 July 2024

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AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome?

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