Angelman syndrome

Angelman syndrome
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.

Dictionary of molecular biology. 2004.

Look at other dictionaries:

  • Angelman syndrome — Angelman syndrome. См. синдром Эйнджелмена. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Angelman syndrome — Infobox Disease Name = Angelman Syndrome Caption = DiseasesDB = 712 ICD10 = ICD10|Q|93|5|q|90 ICD9 = ICD9|759.89 ICDO = OMIM = 105830 MeshID = D017204 Angelman syndrome (AS) is a neuro genetic disorder characterized by intellectual and… …   Wikipedia

  • Angelman syndrome — An important genetic syndrome characterized by severe motor and intellectual retardation, microcephaly (abnormally small head), ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia (floppiness), hyperactivity,… …   Medical dictionary

  • Angelman syndrome — a neurogenetic disorder characterized by severe developmental delay, absence of speech, seizures, a jerky puppet like gait (see ataxia), and paroxysmal laughter (giving it the alternative name happy puppet syndrome). Affected children commonly… …   The new mediacal dictionary

  • angelman syndrome — ˈānjəlmən noun also angelman s syndrome mənz Usage: usually capitalized A Etymology: after Harry Angelman died 1996 English pediatrician : a genetic disorder characterized by severe mental retardation, seizures, ataxic gait, jerky movements, lack …   Useful english dictionary

  • Syndrome d'Angelman — Référence MIM 105830 Transmission Voir article Chromosome 15q11 q13 Gène UBE3A Empreinte parentale Non Mu …   Wikipédia en Français

  • Angelman — Syndrome d Angelman Syndrome d Angelman Autre nom Syndrome du pantin hilare (ne doit plus être utilisé) Référence MIM …   Wikipédia en Français

  • Syndrome de Reth — Syndrome de Rett Syndrome de Rett Autre nom Aucun Référence MIM 312750 …   Wikipédia en Français

  • Syndrome de rett — Autre nom Aucun Référence MIM 312750 …   Wikipédia en Français

  • Syndrome de Rett — Référence MIM 312750 Transmission Dominante liée à l X[1] Chromosome Xq28 Gène MECP2 …   Wikipédia en Français

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