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microdeletion of 15q-13, of maternal origin, resulting in mental retardation, ataxia, paroxysms of laughter, seizures, characteristic facies, and minimal speech. See: Prader-Willi syndrome.
Angelman syndrome(ăn′jəl-mən, ān′-)
A neurodevelopmental genetic disorder characterized by ataxic movements, speech impairment, epileptic seizures, intellectual disability, and frequent laughter.
Angelman syndromeA rare autosomal recessive form of infantile epilepsy (OMIM:234400) characterised by seizures, profound mental retardation, microcephaly (occasionally), unilateral cerebral atrophy, flattened occiput, large mandible, protruding jaw and tongue, a smiling open-mouthed facial expression, paroxysms of inappropriate laughter, gait ataxia, and spastic “bouncing” movements of the extremities (likened to those of a marionette).
An·gel·man syn·drome(an'jĕl-măn sin'drōm)
Genetic condition characterized by mental retardation, seizures, ataxic gait, jerky movements, lack of speech, and frequent smiling or laughing.
Angelman,Harry, 20th century English physician.
Angelman syndrome - recessive gene causing motor dysfunction, mental retardation, hypotonia. Synonym(s): happy puppet syndrome
An·gel·man syn·drome(an'jĕl-măn sin'drōm) [MIM*105830]
Microdeletion of 15q-13, of maternal origin, resulting in mental retardation, ataxia, paroxysms of laughter, seizures, characteristic facies, and minimal speech.