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
Search interest in PPP2R5D
Potential gene panels for PPP2R5D gene
Mental retardation - different panels Panel
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 panelPPP2R5D Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PPP2R5D gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FAM69A NCAPD3 CFTR ALDH1A3 KCNA2 SLC6A20 MSTN