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  3. BAZ1B

BAZ1B gene related symptoms and diseases

All the information presented here about the BAZ1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to BAZ1B gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Tracheoesophageal fistula Very Common - Between 80% and 100% cases
Premature graying of hair Very Common - Between 80% and 100% cases
Hallux valgus Very Common - Between 80% and 100% cases
Open bite Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BAZ1B gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Loss of consciousness
  • Polyuria
  • Glucose intolerance
  • Hypoplastic toenails
  • Celiac disease
  • Abnormality of dental morphology
  • Unilateral renal agenesis
  • Obsessive-compulsive behavior

And 300 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to BAZ1B gene

Here you will find a list of rare diseases related to the BAZ1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WILLIAMS SYNDROME

Alternate names

WILLIAMS SYNDROME Is also known as deletion 7q11.23, williams syndrome, williams-beuren syndrome, chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb, wms, monosomy 7q11.23, ws

Description

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

Most common symptoms of WILLIAMS SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about WILLIAMS SYNDROME

SOURCES: OMIM ORPHANET MESH


Potential gene panels for BAZ1B gene

BAZ1B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BAZ1B gene.

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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