Floating-harbor Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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

Genes related to Floating-harbor Syndrome

SRCAP

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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

— 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.

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.

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 %

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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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