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Summary
THYROID HORMONE METABOLISM, ABNORMAL (THMA)
609698
OMIM = Online Medalian Inheritance of Men
171706
very rare
autosomal recessive
mutation in the SECISBP2 gene

symptoms
bone age, delayed
developmental delay
growth retardation, poor growth
onset, childhood
short stature
laboratory finding
Thyroxine (T4) +€g/dlserum
Triiodothyronine (T3) -Ág/dlserum
Selenium -Ág/dlserum
Literature
Lemcke S,et al.EARLY REGULATION IN CHILDREN WHO ARE LATER DIAGNOSED WITH AUTISM SPECTRUM DISORDER. A LONGITUDINAL STUDY WITHIN THE DANISH NATIONAL BIRTH COHORTInfant Ment Health J002018
Mahdi S,et al.An International Clinical Study of Ability and Disability in Autism Spectrum Disorder Using the WHO-ICF FrameworkJ Autism Dev Disord002018
Micheli V,et al.Neurological disorders of purine and pyrimidine metabolismCurr Top Med Chem118923-9472011