PHF21A gene related symptoms and diseases

All the information presented here about the PHF21A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PHF21A gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Cutaneous syndactyly Very Common - Between 80% and 100% cases
Autistic behavior Very Common - Between 80% and 100% cases
Short philtrum Very Common - Between 80% and 100% cases
Prominent nasal bridge Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PHF21A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Broad forehead
  • Delayed puberty
  • Downturned corners of mouth
  • Single transverse palmar crease
  • Broad nasal tip
  • Prominent nose
  • Underdeveloped nasal alae
  • Abnormality of the genital system

And 46 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PHF21A gene

Here you will find a list of rare diseases related to the PHF21A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


Alternate names

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome, defect11 syndrome, pss, chromosome 11p11.2 deletion syndrome, 11p11.2 deletion, p11pds


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

Most common symptoms of POTOCKI-SHAFFER SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly



Potential gene panels for PHF21A gene

PHF21A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PHF21A gene.

More info about this panel
United States.

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