Chromosomal disorder characterised by microencephaly, feeding and sleep problems, developmental delay, lack of speech and jerky movements.
Found op http://www.nas.org.uk/nas/jsp/polopoly.jsp?d=666
Our Angelman syndrome Main Article provides a comprehensive look at the who, what, when and how of Angelman syndrome Angelman syndrome: An important genetic syndrome characterized by severe motor and intellectual retardation, microcephaly (abnormally small head), ataxia, frequent jerky limb movement...
Found op http://www.medterms.com/script/main/art.html?articlekey=16928
Syndrome in which there is severe mental retardation and ataxic movement associated with absence of maternal 15q11q13, and the absence of the b 3 subunit of GABA receptor-A.
Found op http://www.encyclo.co.uk/visitor-contributions.php
<syndrome> A dysmorphic mental retardation syndrome, that has generated considerable interest in human genetics as a prototypic example of genomic imprinting in man. ... Usually a sporadic disorder, it is characterised by profound intellectual deficiency, a striking puppet-like ataxic gait and...
Found op http://www.mondofacto.com/facts/dictionary?angelman+syndrome
(ān´jәl-mәn) an autosomal recessive syndrome characterized by jerky puppetlike movements, frequent laughter, mental and motor retardation, peculiar open-mouthed expression, and seizures. It can be caused by a deletion on chromosome 15 inherited from the mother; the same deletion in...
Found op http://www.encyclo.co.uk/local/21001
(from the article `Life Sciences`) Epigenetic contributions to disease fall into two classes. One class involves genes that are themselves regulated epigenetically, such as the ... ...carries a mutation, the child will be left with no functional copies of the gene expressed, and the clinical traits ...
Found op http://www.britannica.com/eb/a-z/a/74
A genetic disorder that is characterized by severe mental deficiency, developmental delays, frequent jerky limb movements, microcephaly, seizures, absence of speech and frequent smiling and uncontrolled laughter. Other associated symptoms include sleep disorders, feeding problems, unusual sensitivit...
Found op http://www.pregnology.com/AZ/A/7
Type: Term Definitions: 1. 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
Found op http://www.medilexicon.com/medicaldictionary.php?t=87665
Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genomic imprinting in that it is ...
Found op http://en.wikipedia.org/wiki/Angelman_syndrome
a rare inherited condition which presents with a typical appearance (happy puppet) with epilepsy
Found op http://www.medicalneuroscience.com/neuro_glossary.html
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