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


Potential gene panels for TBC1D23 gene

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

TBC1D23 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TBC1D23 gene.

More info about this panel
United States.

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