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Article

An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay.

Journal of neurogenetics - 1 Jan 2000

Rafiullah Rafiullah, Albalawi Alia M, Alaradi Sultan R, Alluqmani Majed, Mushtaq Muhammad, Wali Abdul, Basit Sulman

Abstract excerpt

Global developmental delay (GDD) is a lifelong disability that affects 1-3% of the population around the globe. It is phenotypically variable and highly heterogeneous in terms of the underlying genetics. Patients with GDD are intellectually disabled (ID) manifesting cognitive impairment and deficient adaptive behavior. Here, we investigated a two-looped consanguineous family segregating severe ID, seizure, and...

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PMID: 36508181
DOI: 10.1080/01677063.2022.2149748

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