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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
No signs/symptoms info
Distal 17p13.3 microdeletion syndrome
X-linked nonsyndromic sensorineural deafness type DFN

YWHAE COL4A6
PRPS1
SMPX


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Distal 17p13.3 microdeletion syndrome
YWHAE
X-linked nonsyndromic sensorineural deafness type DFN
COL4A6 PRPS1 SMPX



Distal 17p13.3 microdeletion syndrome
X-linked nonsyndromic sensorineural deafness type DFN

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the ear and mastoid process -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive

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

No signs/symptoms info available.