Usher syndrome type 1F
- Synonyms
- USHER SYNDROME, TYPE IF
Summary
Excerpted from the GeneReview:Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Robert K Koenekoop
- Moises A Arriaga
- Karmen M Trzupek
- view full author information
Available tests
96 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (96 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of the eye
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Rod-cone dystrophy
- Abnormality of the nervous system
- Impaired tandem gait
Impaired tandem gait
- MedGen UID: 476998
- Concept ID: C3275367
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Impaired tandem gait
- Ear malformation
- Abnormal vestibular function
Abnormal vestibular function
- MedGen UID: 334848
- Concept ID: C1843865
- Finding: Finding
Ear malformation
- Congenital sensorineural hearing impairment
Congenital sensorineural hearing impairment
- MedGen UID: 356101
- Concept ID: C1865866
- Finding: Disease or Syndrome
Ear malformation
- Abnormal vestibular function
- ACMG ACT, 2011American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
- EuroGenetest, 2011Clinical utility gene card for: Usher syndrome.
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