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Article

DNAJC3-Related Syndromic Monogenic Diabetes Without Clinically Evident Neurological Manifestations in an Adult: Expanding the Phenotypic Spectrum.

Genes - 11 Jun 2026

Alshehri Norah A, Alwatban Lemmese, Almutairi Joud S, Almunif Dina S, Alsadhan Khalid F, Alrasheed Abdullah A

Abstract excerpt

Background/Objectives: DNAJC3-related syndromic monogenic diabetes is a rare autosomal recessive disorder that presents as juvenile-onset non-autoimmune diabetes; it has been associated with sensorineural hearing loss, hypothyroidism, short stature, and variable degrees of neurological manifestations. A delayed diagnosis occurs frequently because of fragmented subspecialty care and lack of awareness of syndromic...

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Identifiers

PMID: 42353846
DOI: 10.3390/genes17060687
PMCID: PMC13299322

Genes

DNAJC3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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