| Metadata | |
|---|---|
| ID | DOID:0050681 |
| Name | Borjeson-Forssman-Lehmann syndrome |
| 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. http://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1, http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html |
| Xrefs |
SNOMEDCT_US_2023_03_01:21634003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
BFLS [EXACT] BORJ [EXACT] Borjeson syndrome [EXACT] intellectual deficiency-epilepsy-endocrine disorders syndrome [EXACT] mental retardation, epilepsy, and endocrine disorder [EXACT] MRXSBFL [EXACT] syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type [EXACT] |
| Parent Relationships |