OBO ID: DOID:0050681 |
Term Name: | Borjeson-Forssman-Lehmann syndrome | Search Ontology: | |
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Definition: | An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. (2) | ||
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Ontology: | Human Disease ( DOID:0050681 ) |
OTHER Borjeson-Forssman-Lehmann syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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