X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability

X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability

Willem MA Verhoeven,1– 3 Rolph Pfundt,4,5 Udo FH Engelke,6 Leo AJ Kluijtmans,6 Jos IM Egger3– 5 1Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands; 2Centre for Consultation and Expertise, Utrecht, The Netherlands; 3Vincent van Gogh Centre of Excellence for Neuro...

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Bibliographic Details
Main Authors: Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI
Format: Article
Language:English
Published: Dove Medical Press 2025-01-01
Series:International Medical Case Reports Journal
Subjects:
epsilon-trimethyllysine hydroxylase gene
tmlhe
levocarnitine
autism
intellectual disability
contextual neuropsychology
psychopathology.
Online Access:https://www.dovepress.com/x-linked-autism-type-9-caused-by-a-hemizygote-pathogenic-variant-in-th-peer-reviewed-fulltext-article-IMCRJ
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