Allan–Herndon–Dudley syndrome

Also known as: MCT8 deficiency

X-linked intellectual disability with abnormal thyroid hormone levels.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Thyroid disorders
Sex & age distribution: Male: affected; Female: carriers unaffected; Children: yes, infancy
Gene(s) involved: SLC16A2

Etiology & mechanism

Defective thyroid hormone transport into neurons.

Gene(s) involved (1)

SLC16A2

Symptoms & signs (7)

high t3hypotoniaintellectual disabilitylow t4poor head controlspastic quadriplegiaweight loss

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