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Angelman syndrome (AS)

AS is a neurodevelopmental disorder characterized by severe mental retardation, absent speech, ataxia, sociable affect and dysmorphic facial features. AS and Rett syndrome have overlapping clinical features.

OTHER NAME(S): happy puppet syndrome
ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED

ABREVIATION(S):
AS
ANCR

TYPE: facial anomalies, mental retardation (MR)

Related patway(s): heterochromatin formation

DNAtraffic protein(s) related to disease: MECP2

OMIM: 105830

Last modification date: July 28, 2011