1. Mendelian
  2. Genes
  3. TCF4-AS1

TCF4-AS1 gene related symptoms and diseases

All the information presented here about the TCF4-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to TCF4-AS1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Truncal ataxia Very Common - Between 80% and 100% cases
Incoordination Very Common - Between 80% and 100% cases
Coarse hair Very Common - Between 80% and 100% cases
Hypopigmented skin patches Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TCF4-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Mutism
  • Sleep apnea
  • Aplasia/Hypoplasia of the corpus callosum
  • Widely spaced teeth
  • Abnormal palate morphology
  • Intellectual disability, progressive
  • Finger clinodactyly
  • Abnormal autonomic nervous system physiology

And 105 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TCF4-AS1 gene

Here you will find a list of rare diseases related to the TCF4-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PITT-HOPKINS SYNDROME

Alternate names

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction, mental retardation, syndromal, with intermittent hyperventilation

Description

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

Most common symptoms of PITT-HOPKINS SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about PITT-HOPKINS SYNDROME

SOURCES: ORPHANET OMIM MESH



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