Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
A rare genetic syndromic intellectual disability disorder characterized by congenital persistent microcephaly low birth weight short stature childhood-onset seizures global development delay mild intellectual disability and adolescent or young adult-onset diabetes mellitus. Gait ataxia skeletal abnormalities dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal although delayed myelination and hypoplastic brainstem have been reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome?
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