Term Name: | Borjeson-Forssman-Lehmann syndrome |
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Synonyms: | BFLS, BORJ, Borjeson syndrome, intellectual deficiency-epilepsy-endocrine disorders syndrome, mental retardation, epilepsy, and endocrine disorder, MRXSBFL, 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. |
Ontology: | Human Disease [DOID:0050681] ( DOID:0050681 ) |