HNRNPU gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to HNRNPU gene

Symptoms // Phenotype	% Cases
Global developmental delay	Very Common - Between 80% and 100% cases
Epicanthus	Very Common - Between 80% and 100% cases
Ventriculomegaly	Very Common - Between 80% and 100% cases
Microcephaly	Very Common - Between 80% and 100% cases
Atypical absence seizures	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

• Not very common - Between 30% and 50% cases

• Myoclonus
• Prominent metopic ridge
• Optic disc hypoplasia
• Exaggerated cupid's bow
• Intellectual disability
• Seizures
• Generalized hypotonia
• Absent speech

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to HNRNPU gene

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

Search interest in HNRNPU

Potential gene panels for HNRNPU gene

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