COL4A3BP gene related symptoms and diseases

All the information presented here about the COL4A3BP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COL4A3BP gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Smooth philtrum Very Common - Between 80% and 100% cases
Curly hair Very Common - Between 80% and 100% cases
Myopathic facies Very Common - Between 80% and 100% cases
2-3 toe syndactyly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with COL4A3BP gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Bilateral ptosis
  • Coarse hair
  • Drooling
  • Widely spaced teeth
  • Cerebral visual impairment
  • Stereotypy
  • Postnatal microcephaly
  • Broad-based gait

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to COL4A3BP gene

Here you will find a list of rare diseases related to the COL4A3BP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34

SOURCES: OMIM


Potential gene panels for COL4A3BP gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Autism Spectrum Disorders Panel Panel

Finland.

By Blueprint Genetics Autism Spectrum Disorders Panel that also includes the following genes: RPL10 TCF20 TRIP12 TSC1 TSC2 BCL11A CACNA1C NSD1 NLGN4X NLGN3

More info about this panel


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