Allan-Herndon-Dudley syndrome
Engelsk navn: Allan-Herndon-Dudley syndrome
Engelske synonym: AHDS,MCT8 deficiency,Monocarboxylate transporter 8 deficiency,X-linked intellectual disability-hypotonia syndrome
Definisjon
An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
Fra Orphanet
ORPHA: 59
Klassifiseringsnivå: Disorder
ICD-10: G31.8
Mer informasjon
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