BDH1 gene related symptoms and diseases

All the information presented here about the BDH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BDH1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Small for gestational age Very Common - Between 80% and 100% cases
Long face Very Common - Between 80% and 100% cases
Abnormality of skin pigmentation Very Common - Between 80% and 100% cases
Oral cleft Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BDH1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Joint hyperflexibility
  • Facial asymmetry
  • Pulmonic stenosis
  • Prominent nasal bridge
  • Tapered finger
  • Pectus carinatum
  • Short philtrum
  • Attention deficit hyperactivity disorder

And 62 more phenotypes, you can get all of them using our tools for rare diseases.


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Rare diseases associated to BDH1 gene

Here you will find a list of rare diseases related to the BDH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29), microdeletion 3q29 syndrome, 3q subtelomere deletion syndrome, monosomy 3q29, monosomy 3qter, 3qter deletion


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

Most common symptoms of 3Q29 MICRODELETION SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive



Potential gene panels for BDH1 gene

BDH1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BDH1 gene.

More info about this panel

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