411 REFERENCE · Wiktionary
Jamuar syndrome
Reference material by Wiktionary contributors. This retains its source identity and is not 411 news reporting.
English
Etymology
After Dr. Saumya Jamuar.
Noun
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en medicine An ultra-rare genetic neurodevelopmental disorder characterized by developmental delay, intellectual disability, speech impairment, hypotonia, and epileptic seizures, caused by pathogenic variants in both copies of the UGDH gene.
en eponyms