Allan-Herndon-Dudley syndrome

Rare Disease

MONDO:0010354

Also Known As

AHDSALLAN-Herndon syndromeAllan-Herndon-Dudley syndromeMCT8 deficiencyMCT8-Specific Thyroid Hormone Cell Transporter DeficiencyMCT8-specific thyroid hormone cell Membrane transporter deficiencyX-linked intellectual disability-hypotonia syndromemonocarboxylate transporter 8 deficiencyALLAN-Herndon-DUDLEY syndromeAllan-Herndon syndromeT3 resisitenceT3 resistanceX-linked intellectual disability with hypotoniaintellectual disability and muscular atrophyintellectual disability, X-linked, with hypotoniamental retardation and muscular atrophymental retardation, X-linked, with hypotoniamonocarboxylate transporter-8 deficiencytriiodothyronine resistance

Definition

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