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Article

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.

Brain & development - 1 Jan 2018

Nardello Rosaria, Fontana Antonina, Antona Vincenzo, Beninati Annalisa, Mangano Giuseppe Donato, Stallone Maria Cristina, Mangano Salvatore

Abstract excerpt

The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It has been reported that WDR62 is the second causative gene of autosomal recessive microcephaly...

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Source

Identifiers

PMID: 28756000
DOI: 10.1016/j.braindev.2017.07.003

Genes

MCPH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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