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Weill-marchesani syndrome
autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities
Pronunciation
/waɪl - mɑrkɛˈsɑni ˈsɪnˌdroʊm/
Categories
syndrome
autosomal genetic disease
rare disease