Diagnosis

Developmental delay and intellectual disability

Zubler et al., 2022 - Revised evidence-based development milestones

ACMG, 2020 - Systematic review on outcomes of exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Mithyantha et al., 2017 - Evidence-based recommendations on investigating children with global developmental delay

Treatable-ID - allows searching for treatable causes of intellectual disability, according to associated signs and symptoms

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