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Article

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.

American journal of medical genetics. Part A - 1 Oct 2022

Cappuccio Gerarda, De Bernardi Margherita Lucia, Morlando Alessia, Peduto Cristina, Scala Iris, Pinelli Michele, Bellacchio Emanuele, Gallo Flavio Gioele, Magli Adriano, Plaitano Carmen, Serrano Mercedes, Pías Leticia, Català Jaume, Bolasell Mercè, Torella Annalaura, Nigro Vincenzo, Zanni Ginevra, Brunetti-Pierri Nicola

Abstract excerpt

Hemizygous missense variants in the RPL10 gene encoding a ribosomal unit are responsible for an X-linked syndrome presenting with intellectual disability (ID), autism spectrum disorder, epilepsy, dysmorphic features, and multiple congenital anomalies. Among 15 individuals with RPL10-related disorder reported so far, only one patient had retinitis pigmentosa and microcephaly was observed in approximately half of...

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Identifiers

PMID: 35876338
DOI: 10.1002/ajmg.a.62911
PMCID: PMC9545381

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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