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.

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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

SOURCES: OMIM ORPHANET


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

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

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

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

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

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

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

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

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

MYO18B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYO18B gene.

More info about this panel

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


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