WDR81 gene related symptoms and diseases

All the information presented here about the WDR81 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to WDR81 gene

Symptoms // Phenotype % Cases
Cerebellar hypoplasia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Dysmetria Common - Between 50% and 80% cases
Brain atrophy Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with WDR81 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Gait ataxia
  • Absent speech
  • Intention tremor
  • Cerebellar atrophy
  • Intellectual disability, severe
  • Tremor
  • Dysarthria
  • Truncal ataxia

And 68 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to WDR81 gene

Here you will find a list of rare diseases related to the WDR81. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DYSEQUILIBRIUM SYNDROME


Alternate names

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome, cerebellar hypoplasia, vldlr-associated, non-progressive cerebellar ataxia-intellectual disability syndrome, cerebellar ataxia and mental retardation with or without quadrupedal loco

Description

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

Most common symptoms of DYSEQUILIBRIUM SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about DYSEQUILIBRIUM SYNDROME

SOURCES: OMIM ORPHANET

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Alternate names

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Description

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

Most common symptoms of CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

SOURCES: MESH OMIM

HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3


Alternate names

HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Most common symptoms of HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

  • Abnormal facial shape
  • Ventriculomegaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Polyhydramnios


More info about HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

SOURCES: OMIM


Potential gene panels for WDR81 gene

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Hydrocephalus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

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

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Single gene testing WDR81 Panel

Germany.

By CeGaT GmbH

This panel specifically test the WDR81 gene.

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

WDR81 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the WDR81 gene.

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

CEREBELLAR ATAXIA, CONGENITAL, MENTAL RETARDATION, DYSEQUILIBRIUM Panel

Spain.

By Laboratorio de Genetica Clinica SL CEREBELLAR ATAXIA, CONGENITAL, MENTAL RETARDATION, DYSEQUILIBRIUM that also includes the following genes: VLDLR ATP8A2 CA8 WDR81

More info about this panel


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