Borjeson-Forssman-Lehmann syndrome
Findings
No curated finding names Borjeson-Forssman-Lehmann syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.
Definition from the Mondo Disease Ontology (MONDO:0010537), read 2026-09-29. CC BY 4.0.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad footHPOHP:0001769
- Very frequent (80% to 99% of cases)
- Camptodactyly of toeHPOHP:0001836
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- GynecomastiaHPOHP:0000771
- Very frequent (80% to 99% of cases)
- HypogonadismHPOHP:0000135
- Very frequent (80% to 99% of cases)
- Hypoplasia of penisHPOHP:0008736
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Large earlobeHPOHP:0009748
- Very frequent (80% to 99% of cases)
- Short toeHPOHP:0001831
- Very frequent (80% to 99% of cases)
Show the remaining 22
- Small scrotumHPOHP:0000046
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Tapered fingerHPOHP:0001182
- Very frequent (80% to 99% of cases)
- Truncal obesityHPOHP:0001956
- Very frequent (80% to 99% of cases)
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PHF6HGNC:18145
- Definitive · ClinGen · X-linked · 2018
- Definitive · Illumina · X-linked · 2021
- Definitive · G2P · X-linked · 2022
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
9 names
Resolves to: Borjeson-Forssman-Lehmann syndrome
- Also called
- BFLSBORJBorjeson syndromeBörjeson-Forssman-Lehman SyndromeBorjeson-Forssman-Lehmann syndrome, X-linked recessiveintellectual disability-epilepsy-endocrine disorders syndromeintellectual disability, epilepsy, and endocrine disorderMRXSBFLsyndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type