DLX6 gene related symptoms and diseases
All the information presented here about the DLX6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DLX6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
| Finger syndactyly | Very Common - Between 80% and 100% cases |
| Split hand | Very Common - Between 80% and 100% cases |
| Oligodactyly | Very Common - Between 80% and 100% cases |
| Aniridia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DLX6 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Absent hand
Rare diseases associated to DLX6 gene
Here you will find a list of rare diseases related to the DLX6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION
Alternate names
ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION Is also known as shfm, ectrodactyly, split hand foot malformation
Description
Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.
Most common symptoms of ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION
- Sensorineural hearing impairment
- Finger syndactyly
- Split hand
- Oligodactyly
- Aniridia
More info about ISOLATED SPLIT HAND-SPLIT FOOT MALFORMATION
SOURCES: ORPHANET
Search interest in DLX6
Potential gene panels for DLX6 gene
DLX6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DLX6 gene.
More info about this panel United States.
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