PRKD1 gene related symptoms and diseases

All the information presented here about the PRKD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PRKD1 gene

Symptoms // Phenotype	% Cases
Global developmental delay	Very Common - Between 80% and 100% cases
Abnormal cardiac septum morphology	Very Common - Between 80% and 100% cases
Fragile nails	Very Common - Between 80% and 100% cases
Widely spaced teeth	Very Common - Between 80% and 100% cases
Broad thumb	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PRKD1 gene alterations may also develop some of the following symptoms and phenotypes:

• Commonly - More than 50% cases

• Thin skin
• Sparse scalp hair
• Microdontia
• Ectodermal dysplasia
• Dry skin
• Prominent nasal bridge
• Sparse hair
• Generalized hypotonia

And 11 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PRKD1 gene

Here you will find a list of rare diseases related to the PRKD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

Search interest in PRKD1

Potential gene panels for PRKD1 gene

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