Angelman’s syndrome

A genetic disorder dominated by learning disability, ataxia, jerky puppet-like movements, epilepsy, and various behaviour problems, including some autistic features; associated with loss of maternal alleles on chromosome 15q11-13 and other genetic abnormalities (see figure below).  Some 75% of those with the syndrome have a similar defect as found in the Prader-Willi syndrome, but occurring on chromosome 15.  First reported by Harry Angelman (1915-1996) in 1965 in a study of three cases.

See Ataxia, Autism, Behavioral phenotype syndromes, Epilepsy, MECP2 gene, Methylation, Prader-Willi syndrome