MORM syndrome is an autosomal recessive congenital disorder characterized by mental retardation, truncal obesity, , and micropenis". The disorder shares similar characteristics with Bardet–Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders. MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age. The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder.

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dbo:abstract
  • Das MORM-Syndrom, Akronym für Mentale Retardierung, rumpfbetonte Obesitas (Stammfettsucht), Retinale Dystrophie und Mikropenis, ist eine sehr seltene angeborene Erkrankung mit den namensgebenden Hauptmerkmalen. Die Erstbeschreibung stammt aus dem Jahre 2006 durch die britischen Ärzte David J. Hampshire, Mohammed Ayub, Kelly Springell und Mitarbeiter. (de)
  • MORM syndrome is an autosomal recessive congenital disorder characterized by mental retardation, truncal obesity, , and micropenis". The disorder shares similar characteristics with Bardet–Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders. MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age. The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder. The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans. Further mapping resulted in the identification of a MORM syndrome locus on chromosome 9q34.3 between the genetic markers D9S158 and D9S905. (en)
  • Zespół MORM (ang. MORM syndrome) – rzadki zespół wad wrodzonych, opisany w 2006 roku u czternastu spokrewnionych pacjentów. MORM to akronim od głównych objawów zespołu: opóźnienia umysłowego (mental retardation), otyłości typu centralnego (truncal obesity), dystrofii siatkówki (retinal dystrophy) i nieprawidłowo małego prącia (micropenis). Typowane locus genu odpowiedzialnego za zespół MORM to 9q34. (pl)
dbo:alias
  • Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome, Mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome (en)
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  • C536984
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  • 610156 (xsd:integer)
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  • 75858
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  • 18882012 (xsd:integer)
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  • 9515 (xsd:integer)
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  • 964775430 (xsd:integer)
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  • The image shows chromosome 9. The location of the INPP5E gene has been identified in this image and is relevant as it has been associated with MORM syndrome. The gene is located on the Q or long arm of chromosome 9 and is located near 9q34.3. (en)
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  • 536984.0
dbp:name
  • MORM syndrome (en)
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  • 610156 (xsd:integer)
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  • 75858 (xsd:integer)
dbp:synonyms
  • Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome, Mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome (en)
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rdfs:comment
  • Das MORM-Syndrom, Akronym für Mentale Retardierung, rumpfbetonte Obesitas (Stammfettsucht), Retinale Dystrophie und Mikropenis, ist eine sehr seltene angeborene Erkrankung mit den namensgebenden Hauptmerkmalen. Die Erstbeschreibung stammt aus dem Jahre 2006 durch die britischen Ärzte David J. Hampshire, Mohammed Ayub, Kelly Springell und Mitarbeiter. (de)
  • Zespół MORM (ang. MORM syndrome) – rzadki zespół wad wrodzonych, opisany w 2006 roku u czternastu spokrewnionych pacjentów. MORM to akronim od głównych objawów zespołu: opóźnienia umysłowego (mental retardation), otyłości typu centralnego (truncal obesity), dystrofii siatkówki (retinal dystrophy) i nieprawidłowo małego prącia (micropenis). Typowane locus genu odpowiedzialnego za zespół MORM to 9q34. (pl)
  • MORM syndrome is an autosomal recessive congenital disorder characterized by mental retardation, truncal obesity, , and micropenis". The disorder shares similar characteristics with Bardet–Biedl syndrome and Cohen syndrome, both of which are autosomal recessive genetic disorders. MORM syndrome can be distinguished from the above disorders because symptoms appear at a young age. The disorder is not dependent on sex of the offspring, both male and female offspring are equally likely to inherit the disorder. (en)
rdfs:label
  • MORM-Syndrom (de)
  • MORM syndrome (en)
  • Zespół MORM (pl)
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