Bosch-Boonstra-Schaaf Optic Atrophy Syndrome OMIM# 615722

Facial Gestalt

Visualizaton generated by Face2Gene.

 

Associated Gene

• NR2F1

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Key Features

  • global developmental delay
  • intellectual disability, moderate
  • optic atrophy
  • cortical visual impairment
  • abnormal facial shape

London Medical Databases (LMD):
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
OMIM# 615722

 

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