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. [ http://purl.obolibrary.org/obo/ECO_0007637 ]
Synonyms: Rett's disorder cerebroatrophic hyperammonemia
Term information
- UMLS_CUI:C0035372
- MESH:D015518
- ICD10CM:F84.2
- NCI:C75488
- OMIM:613454
- OMIM:312750
- SNOMEDCT_US_2020_03_01:192583003
- GARD:5696
DO_rare_slim, NCIthesaurus