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DOID:0050681 - Borjeson-Forssman-Lehmann syndrome
Disease Ontology 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.
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
Xenbase Genes
:
phf6
| MONDO:0010537 - Borjeson-Forssman-Lehmann syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee