pervasive developmental disorder Rett syndrome A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. DOID:1206 MSH:C531806 MSH:D015518 NCI:C75488 OMIM mapping confirmed by DO. [SN]. OMIM:312750 OMIM:613454 Rett's disorder SNOMEDCT_2010_1_31:192583003 SNOMEDCT_2010_1_31:68618008 UMLS_CUI:C0035372 cerebroatrophic hyperammonemia disease_ontology