
Also known as COHEN SYNDROME, Pepper Syndrome, COH1, Chs1, Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness, COHEN SYNDROME; COH1, Coh, Chs1, Formerly
a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity
via PubMed
科恩綜合症是一種遺傳病,其會導致嬰幼兒時生長遲滯與低、青少年後中廣型肥胖、重度到極重度智能障礙。 其在的發生率約為1/15000,而其它地方則未明。 遺傳方面,其遺傳方式為體染色體隱性遺傳,不分男女。
Abstract from DBpedia / Wikipedia · CC BY-SA
via Wikidata · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).