PPP2R5D gene related symptoms and diseases

All the information presented here about the PPP2R5D gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PPP2R5D gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Deeply set eye Very Common - Between 80% and 100% cases
Congenital muscular torticollis Very Common - Between 80% and 100% cases
Facial hypotonia Very Common - Between 80% and 100% cases
Pyloric stenosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PPP2R5D gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Tented upper lip vermilion
  • Torticollis
  • Congenital hip dislocation
  • Chronic diarrhea
  • Open mouth
  • Narrow forehead
  • Overgrowth
  • Poor speech

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PPP2R5D gene

Here you will find a list of rare diseases related to the PPP2R5D. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

Most common symptoms of INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for PPP2R5D gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

PPP2R5D Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PPP2R5D gene.

More info about this panel
United States.

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