TBC1D23 gene related symptoms and diseases
All the information presented here about the TBC1D23 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TBC1D23 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Esotropia | Very Common - Between 80% and 100% cases |
Attention deficit hyperactivity disorder | Very Common - Between 80% and 100% cases |
Hypermetropia | Very Common - Between 80% and 100% cases |
Poor speech | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TBC1D23 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Talipes
- Anal atresia
- Bulbous nose
- Inability to walk
- Generalized muscle weakness
- Dandy-Walker malformation
- Protruding ear
- Progressive neurologic deterioration
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TBC1D23 gene
Here you will find a list of rare diseases related to the TBC1D23. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11
Description
PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).
Most common symptoms of PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11
SOURCES: OMIM
Search interest in TBC1D23
Potential gene panels for TBC1D23 gene
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C
More info about this panelTBC1D23 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TBC1D23 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 ATP4A EPG5 WFS1 PDE6D ALG8 IFNGR2 TCF15