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.
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
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
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
Search interest in WDR81
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 United States.
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 United States.
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 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.
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 Germany.
Single gene testing WDR81 Panel
Germany.
By CeGaT GmbH
This panel specifically test the WDR81 gene.
More info about this panel Germany.
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 United States.
WDR81 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the WDR81 gene.
More info about this panel United States.
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 Finland.
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 Spain.
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