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


Potential gene panels for WDR48 gene

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Neurogenetic Disorders - panels Panel

Germany.

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 panel
Germany.

AllNeuro panel Panel

Germany.

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 panel
Germany.

WDR48 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the WDR48 gene.

More info about this panel
United States.

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