KIAA0753 gene related symptoms and diseases
All the information presented here about the KIAA0753 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KIAA0753 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Agenesis of corpus callosum | Very Common - Between 80% and 100% cases |
| Postaxial polydactyly | Very Common - Between 80% and 100% cases |
| Polydactyly | Very Common - Between 80% and 100% cases |
| Hypertelorism | Very Common - Between 80% and 100% cases |
| Lobulated tongue | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KIAA0753 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Molar tooth sign on MRI
- Abnormal facial shape
Not very common - Between 30% and 50% cases
- Intellectual disability
- Bilateral cryptorchidism
- Partial agenesis of the corpus callosum
- Tibial bowing
- Abnormal retinal morphology
- Abnormality of neuronal migration
And 88 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KIAA0753 gene
Here you will find a list of rare diseases related to the KIAA0753. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OROFACIODIGITAL SYNDROME TYPE 6
Alternate names
OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome, polydactyly-cleft lip/palate-psychomotor retardation syndrome, polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation, vÁradi-papp syndrome, joubert syndrome with orofaciodigital defect, oral-facial-digital syndrome type 6,
Description
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
Most common symptoms of OROFACIODIGITAL SYNDROME TYPE 6
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about OROFACIODIGITAL SYNDROME TYPE 6
OROFACIODIGITAL SYNDROME XV; OFD15
Alternate names
OROFACIODIGITAL SYNDROME XV; OFD15 Is also known as oral-facial-digital syndrome, type xv, ofds xv
Most common symptoms of OROFACIODIGITAL SYNDROME XV; OFD15
- Hypertelorism
- Abnormal facial shape
- Wide nasal bridge
- Ventriculomegaly
- Anteverted nares
More info about OROFACIODIGITAL SYNDROME XV; OFD15
SOURCES: OMIM
Search interest in KIAA0753
Potential gene panels for KIAA0753 gene
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
KIAA0753 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KIAA0753 gene.
More info about this panel United States.
Joubert Syndrome Panel Panel
Finland.
By Blueprint Genetics Joubert Syndrome Panel that also includes the following genes: CEP41 CFAP410 TMEM237 ZNF423 KIAA0586 ARMC9 INPP5E AHI1 B9D1 TCTN3
More info about this panel Finland.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
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