SUZ12 gene related symptoms and diseases
All the information presented here about the SUZ12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SUZ12 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Abnormality of the fingernails | Uncommon - Between 30% and 50% cases |
| Round face | Uncommon - Between 30% and 50% cases |
| Hypoplasia of penis | Uncommon - Between 30% and 50% cases |
| Fine hair | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SUZ12 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of the metaphysis
- Broad thumb
- Tall stature
- Hoarse voice
- Accelerated skeletal maturation
- Finger syndactyly
- Sandal gap
- Deep philtrum
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SUZ12 gene
Here you will find a list of rare diseases related to the SUZ12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
WEAVER SYNDROME
Alternate names
WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome
Description
Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
Most common symptoms of WEAVER SYNDROME
- Intellectual disability
- Global developmental delay
- Scoliosis
- Hypertelorism
- Micrognathia
More info about WEAVER SYNDROME
SOURCES: ORPHANET
ENDOMETRIAL STROMAL SARCOMA
Alternate names
ENDOMETRIAL STROMAL SARCOMA Is also known as stromal sarcoma of the corpus uteri
More info about ENDOMETRIAL STROMAL SARCOMA
SOURCES: ORPHANET
Search interest in SUZ12
Potential gene panels for SUZ12 gene
FoundationOne® Heme Panel
United States.
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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