- global developmental delay
- intellectual disability, moderate
- optic atrophy
- cortical visual impairment
- abnormal facial shape
London Medical Databases (LMD):
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Born out of decades of research and data collection, London Medical Databases (LMD) is the most comprehensive resource for photos and information about syndromes, genes and clinical phenotypes.
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Visualization of Facial Features