TAPT1 gene related symptoms and diseases

All the information presented here about the TAPT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TAPT1 gene

Symptoms // Phenotype	% Cases
Microcephaly	Very Common - Between 80% and 100% cases
Adducted thumb	Very Common - Between 80% and 100% cases
Pulmonary hypoplasia	Very Common - Between 80% and 100% cases
Recurrent fractures	Very Common - Between 80% and 100% cases
Ascites	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TAPT1 gene alterations may also develop some of the following symptoms and phenotypes:

• Commonly - More than 50% cases

• Webbed neck
• Limb undergrowth
• Cardiomegaly
• Hydrops fetalis
• Short ribs
• Wormian bones
• Disproportionate short-limb short stature
• Pleural effusion

And 41 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TAPT1 gene

Here you will find a list of rare diseases related to the TAPT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

Search interest in TAPT1

Potential gene panels for TAPT1 gene

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