Rett syndrome (DOID:1206)
Alliance: disease page
Synonyms: cerebroatrophic hyperammonemia; Rett's disorder
Alt IDs: OMIM:312750, OMIM:613454, ICD10CM:F84.2, MESH:D015518, NCI:C75488, UMLS_CUI:C0035372
Definition: A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.