Term Name: | Rett syndrome |
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Synonyms: | cerebroatrophic hyperammonemia, Rett's disorder |
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. |
Ontology: | Human Disease [DOID:1206] ( DOID:1206 ) |