OBO ID: DOID:0060409 |
Term Name: | NFIA-related disorder | Search Ontology: | |
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Definition: | A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. https://www.ncbi.nlm.nih.gov/books/NBK542336/ | ||
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Ontology: | Human Disease ( DOID:0060409 ) |
OTHER NFIA-related disorder PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
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