Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

MeSH terms

• Abnormalities, Multiple*
• Anterior Chamber / abnormalities
• Bone and Bones / abnormalities*
• Face / abnormalities*
• Female
• Genes, Dominant / genetics*
• Humans
• Hydrocephalus / genetics*
• Infant, Newborn
• Male
• Oculomotor Muscles / abnormalities*
• Phenotype
• Syndrome