Also known as MOMO SYNDROME, Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome, Macrosomia, obesity, macrocephaly, ocular abnormalities, Macrocephaly-obesity-mental disability-ocular abnormalities syndrome, Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities, Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)
via PubMed
extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only six cases around the world, and occurs in 1 in 100 million births
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).