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.
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
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