WDR48 gene related symptoms and diseases
All the information presented here about the WDR48 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to WDR48 gene
Symptoms // Phenotype | % Cases |
---|---|
Nystagmus | Very Common - Between 80% and 100% cases |
Intellectual disability, mild | Very Common - Between 80% and 100% cases |
Difficulty walking | Very Common - Between 80% and 100% cases |
Spastic paraplegia | Very Common - Between 80% and 100% cases |
Lower limb spasticity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with WDR48 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Spastic gait
- Impaired vibration sensation in the lower limbs
- Limb hypertonia
- Motor axonal neuropathy
Rare diseases associated to WDR48 gene
Here you will find a list of rare diseases related to the WDR48. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60
Alternate names
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60 Is also known as spg60
Description
Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.
Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60
- Nystagmus
- Intellectual disability, mild
- Difficulty walking
- Spastic paraplegia
- Lower limb spasticity
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60
SOURCES: ORPHANET
Search interest in WDR48
Potential gene panels for WDR48 gene
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelWDR48 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the WDR48 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like AARS2 KLK4 AFF1 HNRNPH2 CAMK2B SLC25A46 ARSE