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Browse result for Boerjeson-Forssman-Lehmann syndrome
※ introduction 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.
Reference
DiseaseOntology: Boerjeson-Forssman-Lehmann syndrome
Reference
DiseaseOntology: Boerjeson-Forssman-Lehmann syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD09334 | Q8IWS0 | 84295 | PHF6 | PHD finger protein 6 | Homo sapiens |
