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Article

Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.

American journal of medical genetics. Part A - 1 Aug 2014

Seeley Andrea H, Durham Mark A, Micale Mark A, Wesolowski Jeffrey, Foerster Bradley R, Martin Donna M

Abstract excerpt

Macrocerebellum is a rare condition characterized by enlargement of the cerebellum with conservation of the overall shape and cytoarchitecture. Here, we report on a child with a distinctive constellation of clinical features including macrocerebellum, epilepsy, apparent intellectual disability, d...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 16

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Share to In Situ Hybridization, Fluorescence

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Source

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Identifiers

PMID: 24719385
DOI: 10.1002/ajmg.a.36569
PMCID: PMC4266592

Genes

FBXO31
JPH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24719385-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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