Borjeson-forssman-lehmann Syndrome

Description

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

Clinical Features

Top most frequent phenotypes and symptoms related to Borjeson-forssman-lehmann Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Nystagmus
  • Failure to thrive

And another 69 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Borjeson-forssman-lehmann Syndrome Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type, bfls, intellectual disability-epilepsy-endocrine disorders syndrome, borjeson syndrome, mrxsbfl, mental retardation, epilepsy, and endocrine disorders, borj.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Borjeson-forssman-lehmann Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc (United States).

SLC35A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, CDKL5, SYN1, SYP, CACNA2D1, PCDH19, ARHGEF9, DEAF1, CASK, ALG9, RAB39B, BCKDK, ARX, SPATA5 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
NGS Overgrowth/Macrocephaly Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

MED12, NSD1, CDKN1C, PHF6, UPF3B, RNF135, CUL4B, DNMT3A, EZH2, GLI3, GPC3, NFIX, PTCH1, PTEN
Specificity
8 %
Genes
100 %
Borjeson-Forssman-Lehmann syndrome.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

PHF6
Specificity
100 %
Genes
100 %
Coffin-Siris Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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