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X-linked nonsyndromic sensorineural deafness type DFN
4 OMIM references -
3 associated genes
22 connected diseases
No signs/symptoms info
Disease Type of connection
X-linked diffuse leiomyomatosis - Alport syndrome
Lethal ataxia with deafness and optic atrophy
Phosphoribosylpyrophosphate synthetase superactivity
X-linked Charcot-Marie-Tooth disease type 5
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
17p13.3 microduplication syndrome
Autosomal recessive spastic paraplegia type 21
Chuvash erythrocytosis
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Von Hippel-Lindau disease
Young adult-onset Parkinsonism
Congenital stromal corneal dystrophy
Metaphyseal anadysplasia
Fibronectin glomerulopathy
X-linked Alport syndrome
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 genetic disease
- Rare otorhinolaryngologic disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
External references:
4 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
COL4A6 Q14031303631
PRPS1 P60891311850
SMPX Q9UHP9300226
No signs/symptoms info available.