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Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency. is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner. Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.

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  • Gillespie-Syndrom
  • Gillespie syndrome
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  • Das Gillespie-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Aniridie, zerebelläre Ataxie und Intelligenzminderung. Synonyme sind: Aniridie-zerebelläre Ataxie-Intelligenzminderung-Syndrom Die Erstbeschreibung stammt aus dem Jahre 1965 durch den US-amerikanischen Augenarzt Frederick D. Gillespie.
  • Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency. is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner. Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.
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  • Gillespie syndrome
name
  • Gillespie syndrome
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synonyms
  • Aniridia-cerebellar ataxia-intellectual disability, Partial aniridia-cerebellar ataxia-oligophrenia
has abstract
  • Das Gillespie-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Aniridie, zerebelläre Ataxie und Intelligenzminderung. Synonyme sind: Aniridie-zerebelläre Ataxie-Intelligenzminderung-Syndrom Die Erstbeschreibung stammt aus dem Jahre 1965 durch den US-amerikanischen Augenarzt Frederick D. Gillespie.
  • Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency. is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner. Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.
DiseasesDB
ICD
OMIM
Orphanet
DiseasesDB
  • 32735
ICD10
  • G11.05
ICD9
  • 759.89
OMIM id
ORPHA
  • 1065
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