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Article

XLA-MTS: a distinct clinical genetic entity characterized by immunodeficiency and neurodevelopmental delay.

Orphanet journal of rare diseases - 25 Jun 2026

Ventura Ignacio, Revert-Ros Francisco, Revert Fernando, Marín-Paya Juan Carlos, Ruíz-Pérez Natalia, Prieto-Ruiz Jesús Ángel, Hernández-Andreu José Miguel

Abstract excerpt

BACKGROUND: Mohr-Tranebjærg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder, typically presenting with progressive sensorineural hearing loss in early childhood, followed by neurological deterioration, dystonia, ataxia, and visual impairment. OBJECTIVE: This study aimed to conduct a comprehensive clinical, genetic, and phenotypic review of MTS, with particular emphasis on mutations in the...

Read the complete abstract on PubMed

Topics

Humans
Genetic Diseases, X-Linked
Agammaglobulinaemia Tyrosine Kinase
Hearing Loss, Sensorineural
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Agammaglobulinemia

Neurodevelopmental Disorders

Mitochondrial Precursor Protein Import Complex Proteins

X-Linked Intellectual Disability

Dystonia

Intellectual Disability

Optic Atrophy

Deaf-Blind Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 42343459
DOI: 10.1186/s13023-026-04447-7
PMCID: PMC13587407

Genes

TIMM8A
BTK
DLD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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