MYO18B gene related symptoms and diseases
All the information presented here about the MYO18B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MYO18B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Frequent falls | Very Common - Between 80% and 100% cases |
| Falls | Very Common - Between 80% and 100% cases |
| Bulbous nose | Very Common - Between 80% and 100% cases |
| Everted lower lip vermilion | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MYO18B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Webbed neck
- Underdeveloped nasal alae
- Low posterior hairline
- Bilateral ptosis
- Clinodactyly
- Mild short stature
- Centrally nucleated skeletal muscle fibers
- Thoracolumbar scoliosis
And 24 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MYO18B gene
Here you will find a list of rare diseases related to the MYO18B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME
Description
Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).
Most common symptoms of KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME
- Short stature
- Generalized hypotonia
- Microcephaly
- Scoliosis
- Micrognathia
More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME
Search interest in MYO18B
Potential gene panels for MYO18B gene
Klippel-Feil syndrome (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Klippel-Feil syndrome (NGS panel for 5 genes) that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel Portugal.
Klippel-Feil syndrome (NGS panel for 5 genes) Panel
Portugal.
By CGC Genetics Klippel-Feil syndrome (NGS panel for 5 genes) that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel Portugal.
Congenital Myopathy Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 MICU1 SELENON
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel United States.
Klippel-Feil syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome Comprehensive panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Klippel-Feil syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome NGS panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Klippel-Feil syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Klippel-Feil syndrome Deletion / Duplication panel that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1
More info about this panel United States.
Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MYO18B gene.
More info about this panel Germany.
Klippel-feil syndrome panel Panel
Germany.
By Centogene AG - the Rare Disease Company Klippel-feil syndrome panel that also includes the following genes: MYO18B GDF3 GDF6 MEOX1
More info about this panel Germany.
MYO18B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYO18B gene.
More info about this panel United States.
KLIPPEL-FEIL SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL KLIPPEL-FEIL SYNDROME NGS PANEL that also includes the following genes: MYO18B RIPPLY2 GDF3 GDF6 MEOX1 PAX1
More info about this panel Spain.
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