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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.
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
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