Also known as Faciodigitogenital syndrome, Shawl scrotum syndrome, Faciogenital dysplasia, Aarskog, Facial-digital-genital syndrome, Aarskog Scott Syndrome, Aarskog-Scott syndrome, Aarskog's syndrome
monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).