Allan-Herndon-Dudley syndrome
A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
MONDO:0016412
peripheral hypothyroidism
excluded_subClassOf
MONDO:0017226
Pelizaeus-Merzbacher-like disease
excluded_subClassOf
MONDO:0017916
obsolete pure or complex X-linked spastic paraplegia (obsolete MONDO:0017916)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
is_a
AHDS
exact
ALLAN-Herndon syndrome
exact
Allan-Herndon-Dudley syndrome
exact
MCT8 deficiency
exact
MCT8-Specific Thyroid Hormone Cell Transporter Deficiency
exact
MCT8-specific thyroid hormone cell Membrane transporter deficiency
exact
T3 resisitence
related
X-linked intellectual disability with hypotonia
related
X-linked intellectual disability-hypotonia syndrome
exact
intellectual disability and muscular atrophy
related
mental retardation and muscular atrophy
related
mental retardation, X-linked, with hypotonia
related
monocarboxylate transporter 8 deficiency
exact
monocarboxylate transporter-8 deficiency
related
triiodothyronine resistance
related