NCLN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to NCLN gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Long nose	Very Common - Between 80% and 100% cases
Sloping forehead	Very Common - Between 80% and 100% cases
Aganglionic megacolon	Very Common - Between 80% and 100% cases
Long eyelashes	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

• Commonly - More than 50% cases

• Low anterior hairline
• Increased body weight
• Abnormal autonomic nervous system physiology
• Adducted thumb
• Failure to thrive in infancy
• Intestinal obstruction
• Flat occiput
• Malnutrition

And 42 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NCLN gene

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

Search interest in NCLN

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