GenTIGSA Gene Database on Rare Genetic Disorders
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Allan-Herndon-Dudley Syndrome  
Disease Aliases (26)

Ahds

Allan-herndon syndrome

Allan-herndon-dudley syndrome; ahds

Allan-herndon-dudley syndrome

Intellectual disability and muscular atrophy

Mct8 (slc16a2)-specific thyroid hormone cell transporter deficiency

Mct8 deficiency

Mct8-specific thyroid hormone cell-membrane transporter deficiency

Mct8-specific thyroid hormone cell membrane transporter deficiency

Mental retardation and muscular atrophy

Mental retardation, x-linked, with hypotonia

Monocarboxylate transporter 8 deficiency

Monocarboxylate transporter 8 (mct8) deficiency

Monocarboxylate transporter-8 deficiency

T3 resistance

T3 resisitence

Triiodothyronine resistance

Triiodothyronine resistence

X-linked intellectual disability - hypotonia

X-linked intellectual disability with hypotonia

X-linked intellectual disability-hypotonia syndrome

X-linked intellectual disability-spastic quadriparesis syndrome

X-linked mental retardation with hypotonia

Intellectual disability with spastic paraplegia

Intellectual disability, x-linked, with hypotonia

Mental retardation with spastic paraplegia

Associated Genes (1)
 

NCBI-RefSeq:  SLC16A2   (Solute carrier family 16 member 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Allan-Herndon-Dudley syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations