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Rett syndrome, congenital variant

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A severe neurodevelopmental disorder with features of classic Rett syndrome but earlier onset in the first months of life. Clinical features include progressive microcephaly, hypotonia, irresponsiveness and irritability in the neonatal period, mental retardation, psychomotor regression and stereotypical movements.
Mondo Term and Equivalent IDs
MONDO:0013270:  Rett syndrome, congenital variant
UMLS:C3150705: