Case of Autosomal Recessive METTL5 Related Intellectual Disability with Deafness (P2-6.016)

To present a case of an individual with sensorineural hearing loss and complex developmental delay who has a METTL5 homozygous mutation.

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Publication Details

Journal
Neurology
Published
2025-04-07
DOI
https://doi.org/10.1212/wnl.0000000000208379
Primary Topic
Ubiquitin and proteasome pathways
Type
article
Field-Weighted Citation Impact
0.00
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article

Case of Autosomal Recessive METTL5 Related Intellectual Disability with Deafness (P2-6.016)

Megan Bone, Shreya Daniel
Neurology
Ubiquitin and proteasome pathways
article

Case of Autosomal Recessive METTL5 Related Intellectual Disability with Deafness (P2-6.016)

Megan Bone, Shreya Daniel
article en

Abstract

To present a case of an individual with sensorineural hearing loss and complex developmental delay who has a METTL5 homozygous mutation.

NeurologyVol. 104(7_Supplement_1)
Kennedy Krieger Institute (US), Johns Hopkins University (US), Johns Hopkins Medicine (US)
Quality Education
Openalex Percentile: Top 94%
Ubiquitin and proteasome pathways
DOISourceOpenAlex
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