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Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Congenital Malformations and Chromosomal Abnormalities

Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare, autosomally inherited condition characterized by developmental delay, intellectual disability, and decreased visual acuity from optic atrophy.

Facts
Classification
Body System
Eye 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Transmission Route
Non-Transmissible 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
First Described
2014 4
Sources
1. Wikipedia: Bosch-Boonstra-Schaaf optic atrophy syndrome
Wikipedia
  • Lead - causative-agent
    Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity.
  • Lead - body-system
    Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity.
  • Lead section, transmission-route statement
    Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity.
View the Source
2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
View the Source
3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases section
Quote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
View the Source
4. Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (Wikipedia)
Lead section
Quote, Lead section
Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity.
View the Source
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