Floating-harbor Syndrome

Description

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Clinical Features

Top most frequent phenotypes and symptoms related to Floating-harbor Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Strabismus

And another 132 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

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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Floating-harbor Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SRCAP sequencing.

By Genetic Services Laboratory University of Chicago (United States).

SRCAP
Specificity
100 %
Genes
100 %
SRCAP deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

SRCAP
Specificity
100 %
Genes
100 %
SRCAP. Detection of the mutations between 2407-2517 codons by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SRCAP
Specificity
100 %
Genes
100 %
SRCAP. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SRCAP
Specificity
100 %
Genes
100 %
Floating-Harbor syndrome (sequence analysis of SRCAP gene).

By CGC Genetics (Portugal).

SRCAP
Specificity
100 %
Genes
100 %
Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

SRCAP, CREBBP, EP300
Specificity
34 %
Genes
100 %
Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SF3B4, SMC1A, TCF12, TCOF1, TWIST1, HDAC8, SRCAP, POLR1C, POLR1D, CREBBP, SMC3, DHODH, NIPBL, EFTUD2, EP300, FGFR1, FGFR2, FGFR3, RAD21
Specificity
6 %
Genes
100 %
Floating-Harbor Syndrome via SRCAP Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SRCAP
Specificity
100 %
Genes
100 %

We have 24 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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