sabrinatoro
commented
1 month ago OMIM:618603 is already in Mondo: 'neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities' (MONDO:0032829)
Based on my research and the review of this paper, it appears variations in POLR2A lead to a spectrum of phenotypes (some more severe than others, e.g. possibly including autism), but all fall into the category of the NEDHIB disease (OMIM:618603).
Therefore I believe that we do not need a new term, and can update the existing Mondo record (MONDO:0032829) with the following exact synonyms:
- POLR2A-related disorder
- POLR2A-associated neurodevelopmental disability
@galyea123, would you agree? Or do you think that there are (or might be) other disorders that are caused by variation(s) in POLR2A and not NEDHIB? (if the latter, then we'll create a new term) Thank you!
galyea123
POLR2A-related disorders
Synonyms:
Definition Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is a disorder of neurologic development characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Other features may include feeding difficulties, dysmorphic features, and visual problems. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles.
Source of definition: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6699192/
ORCID ID: 000-001-9310-0163
Thank you, Gioconda Alyea