ADD3 gene related symptoms and diseases
All the information presented here about the ADD3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ADD3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Spastic tetraplegia | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Nystagmus | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ADD3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Spasticity
- Spastic diplegia
Not very common - Between 30% and 50% cases
- Intellectual disability
- Dysphagia
- Cognitive impairment
- Dysarthria
- Heterotopia
- Abnormal pyramidal sign
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ADD3 gene
Here you will find a list of rare diseases related to the ADD3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INHERITED CONGENITAL SPASTIC TETRAPLEGIA
Alternate names
INHERITED CONGENITAL SPASTIC TETRAPLEGIA Is also known as spastic quadriplegic cerebral palsy, inherited congenital spastic quadriplegia
Description
Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.
Most common symptoms of INHERITED CONGENITAL SPASTIC TETRAPLEGIA
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Scoliosis
More info about INHERITED CONGENITAL SPASTIC TETRAPLEGIA
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3
Most common symptoms of CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3
- Seizures
- Global developmental delay
- Microcephaly
- Nystagmus
- Strabismus
More info about CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3
SOURCES: OMIM
Search interest in ADD3
Potential gene panels for ADD3 gene
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
ADD3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADD3 gene.
More info about this panel United States.
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