NKX6-2 gene related symptoms and diseases
All the information presented here about the NKX6-2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NKX6-2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Abnormal pyramidal sign | Very Common - Between 80% and 100% cases |
| Hypometric saccades | Very Common - Between 80% and 100% cases |
| Titubation | Very Common - Between 80% and 100% cases |
| Spastic ataxia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NKX6-2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Limb dystonia
- Truncal ataxia
- Leukodystrophy
- Limb ataxia
- Neurodegeneration
- Abnormality of eye movement
- Abnormality of the eye
- Generalized hypotonia
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NKX6-2 gene
Here you will find a list of rare diseases related to the NKX6-2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8
Description
Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).
Most common symptoms of SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Nystagmus
- Spasticity
More info about SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8
SOURCES: OMIM
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