ALLAN-HERNDON-DUDLEY SYNDROME

AHDS

http://purl.bioontology.org/ontology/OMIM/300523

AHDS

T3 RESISTANCE

ALLAN-HERNDON SYNDROME

MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY

MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA

MENTAL RETARDATION AND MUSCULAR ATROPHY

TRIIODOTHYRONINE RESISTANCE

C0795889

Xq13.2

XPCT

DXS128

SLC16A2

http://purl.bioontology.org/ontology/OMIM/MTHU008237

http://purl.bioontology.org/ontology/OMIM/MTHU008235

http://purl.bioontology.org/ontology/OMIM/MTHU008239

http://purl.bioontology.org/ontology/OMIM/MTHU008229

http://purl.bioontology.org/ontology/OMIM/MTHU008233

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU008227

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU007254

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU008247

http://purl.bioontology.org/ontology/OMIM/MTHU008241

http://purl.bioontology.org/ontology/OMIM/MTHU007266

http://purl.bioontology.org/ontology/OMIM/MTHU008245

http://purl.bioontology.org/ontology/OMIM/MTHU008243

http://purl.bioontology.org/ontology/OMIM/MTHU008231

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000473

http://purl.bioontology.org/ontology/OMIM/MTHU011667

http://purl.bioontology.org/ontology/OMIM/MTHU008228

http://purl.bioontology.org/ontology/OMIM/MTHU001452

http://purl.bioontology.org/ontology/OMIM/MTHU036517

http://purl.bioontology.org/ontology/OMIM/MTHU008226

http://purl.bioontology.org/ontology/OMIM/MTHU025631

http://purl.bioontology.org/ontology/OMIM/MTHU008244

http://purl.bioontology.org/ontology/OMIM/MTHU008242

http://purl.bioontology.org/ontology/OMIM/MTHU008232

http://purl.bioontology.org/ontology/OMIM/MTHU008238

http://purl.bioontology.org/ontology/OMIM/MTHU008230

http://purl.bioontology.org/ontology/OMIM/MTHU008234

http://purl.bioontology.org/ontology/OMIM/MTHU003493

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU003929

http://purl.bioontology.org/ontology/OMIM/MTHU008248

http://purl.bioontology.org/ontology/OMIM/MTHU008246

http://purl.bioontology.org/ontology/OMIM/MTHU000655

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000381

http://purl.bioontology.org/ontology/OMIM/MTHU004589

http://purl.bioontology.org/ontology/OMIM/MTHU000470

http://purl.bioontology.org/ontology/OMIM/MTHU000744

http://purl.bioontology.org/ontology/OMIM/MTHU001237

http://purl.bioontology.org/ontology/OMIM/MTHU067999

http://purl.bioontology.org/ontology/OMIM/MTHU008225

Phenotype description, molecular basis known.

309600

300523

3

pound

ALLAN-HERNDON-DUDLEY SYNDROME

Onset at birth [MISCELLANEOUS]

Caused by mutation in the monocarboxylate transporter 8 gene (MCT8, 300095.0001) [MOLECULAR BASIS]

Heterozygous females may have milder thyroid phenotype and no neurologic abnormalities [MISCELLANEOUS]

No peripheral signs of hypothyroidism [MISCELLANEOUS]

T047