1. Mendelian
  2. Rare Disease Genes
  3. THOC6

THOC6 gene related symptoms and diseases

All the information presented here about the THOC6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to THOC6 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Overlapping toe Very Common - Between 80% and 100% cases
Dental malocclusion Very Common - Between 80% and 100% cases
Renal agenesis Very Common - Between 80% and 100% cases
Short palpebral fissure Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with THOC6 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Recurrent urinary tract infections
  • Pointed chin
  • Horseshoe kidney
  • Premature ovarian insufficiency
  • Unilateral renal agenesis
  • Long nose
  • Carious teeth
  • Low hanging columella

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to THOC6 gene

Here you will find a list of rare diseases related to the THOC6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Alternate names

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations, beaulieu-boycott-innes syndrome, bbis

Description

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

Most common symptoms of THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for THOC6 gene

THOC6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the THOC6 gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HESX1 DLX6 AMPD1 VWA3B