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ENAllan-Herndon-Dudley Syndrome (AHDS)
Alias:
Ahds
Monocarboxylate Transporter 8 Deficiency
Mct8 Deficiency
Allan-Herndon Syndrome
X-Linked Intellectual Disability-Hypotonia Syndrome
Mental Retardation, X-Linked, with Hypotonia
Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency
Monocarboxylate Transporter 8 Deficiency
Mental Retardation and Muscular Atrophy
X-Linked Mental Retardation-Hypotonia
Triiodothyronine Resistance
T3 Resistance
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Allan-Herndon-Dudley Syndrome, also known as ahds, is related to graves disease 1 and hyperthyroidism, and has symptoms including ataxia and clonus. An important gene associated with Allan-Herndon-Dudley Syndrome is SLC16A2 (Solute Carrier Family 16 Member 2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Regulation of expression of SLITs and ROBOs. The drugs Phenylbutyric acid and Glycerin have been mentioned in the context of this disorder. Affiliated tissues include thyroid and brain, and related phenotypes are intellectual disability and axial hypotonia
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MALACARDS
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