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PedAM

Pediatric Disease Annotations & Medicines




Disease intellectual disability
Phenotype C0011847|diabetes
Sentences 5
PubMedID- 26099802 The incidence of diabetes in people with an intellectual disability, although unknown, is indicated to be higher than the general population.
PubMedID- 24824086 diabetes in people with an intellectual disability: a systematic review of prevalence, incidence and impact.
PubMedID- 24204302 In a large consanguineous family of moroccan origin, we identified a new syndrome of severe insulinopenic young onset diabetes and microcephaly with intellectual disability.
PubMedID- 26159176 Here, we report the first homozygous mutation in the ppp1r15b gene (also known as constitutive repressor of eif2alpha phosphorylation [crep]) encoding the regulatory subunit of an eif2alpha-specific phosphatase in two siblings affected by a novel syndrome of diabetes of youth with short stature, intellectual disability, and microcephaly.
PubMedID- 24106787 Subjects are included only if able to independently manage their diabetes and those with an intellectual disability requiring caregiver assistance with diabetes management are not eligible for the study.

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