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Allan-Herndon-Dudley Syndrome (MONDO:0010354)

A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

MONDO:0010354

Internal:11521

Synonyms

AHDS

ALLAN-Herndon syndrome

Allan-Herndon-Dudley syndrome

MCT8 deficiency

MCT8-Specific Thyroid Hormone Cell Transporter Deficiency

MCT8-specific thyroid hormone cell Membrane transporter deficiency

X-linked intellectual disability-hypotonia syndrome

monocarboxylate transporter 8 deficiency

ALLAN-Herndon-DUDLEY syndrome

Allan-Herndon syndrome

T3 resisitence

T3 resistance

X-linked intellectual disability with hypotonia

intellectual disability and muscular atrophy

intellectual disability, X-linked, with hypotonia

mental retardation and muscular atrophy

mental retardation, X-linked, with hypotonia

monocarboxylate transporter-8 deficiency

triiodothyronine resistance

Mapped terms

DOID:0050631

GARD:0005617

MEDGEN:208645

MESH:C537047

NANDO:1200580

NANDO:2201292

NCIT:C118843

NORD:1415

OMIM:300523

Orphanet:59

SCTID:702327009

UMLS:C0795889

icd11.foundation:56813604

Child terms

Unknown children.

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