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Borjeson-Forssman-Lehmann syndrome
Summary
- Synonym
-
- BFLS
- BORJ
- Borjeson syndrome
- MRXSBFL
- intellectual deficiency-epilepsy-endocrine disorders syndrome
- mental retardation, epilepsy, and endocrine disorder
- syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type
- 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.
- Super Class
- X-linked recessive disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0050681
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00492 | Hypoxanthine-guanine phosphoribosyltransferase |
