POLR2F gene related symptoms and diseases
All the information presented here about the POLR2F gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to POLR2F gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Portal hypertension | Very Common - Between 80% and 100% cases |
| Heterochromia iridis | Very Common - Between 80% and 100% cases |
| Blue irides | Very Common - Between 80% and 100% cases |
| Abnormal eyebrow morphology | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with POLR2F gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypopigmentation of hair
- Congenital nystagmus
- Premature graying of hair
- Intestinal obstruction
- Decreased nerve conduction velocity
- Demyelinating peripheral neuropathy
- CNS hypomyelination
- Anosmia
And 71 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to POLR2F gene
Here you will find a list of rare diseases related to the POLR2F. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE
Alternate names
PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome, waardenburg-shah syndrome, neurologic variant, pcwh, ws4 plus
Description
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.
Most common symptoms of PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE
Search interest in POLR2F
Potential gene panels for POLR2F gene
POLR2F Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the POLR2F gene.
More info about this panel United States.
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