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4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
X-linked nonsyndromic sensorineural deafness type DFN
Autosomal recessive spastic paraplegia type 21

COL4A6 SPG21
PRPS1
SMPX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PRPS1
(0.63)
SPG21



Citations in the biomedical literature:


X-linked nonsyndromic sensorineural deafness type DFN
COL4A6 PRPS1 SMPX
Autosomal recessive spastic paraplegia type 21
SPG21



X-linked nonsyndromic sensorineural deafness type DFN
Autosomal recessive spastic paraplegia type 21

Synonym(s):
- X-linked isolated neurosensory deafness type DFN
- X-linked isolated neurosensory hearing loss type DFN
- X-linked isolated sensorineural deafness type DFN
- X-linked isolated sensorineural hearing loss type DFN
- X-linked nonsyndromic neurosensory deafness type DFN
- X-linked nonsyndromic neurosensory hearing loss type DFN
- X-linked nonsyndromic sensorineural hearing loss type DFN

Synonym(s):
- Mast syndrome
- SPG21

Classification (Orphanet):
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the ear and mastoid process -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.